R3NC8H last accessed: 2022-11-04

Other names: DGV, Database of Genomic Variants (DGV), A curated catalogue of human genomic structural variation

The Database of Genomic Variants (DGV) is a publicly accessible, comprehensive curated catalogue of structural variation (SV) found in the genomes of control individuals from worldwide populations.

Webpage:

http://dgv.tcag.ca/

Licence:

Name: TCAG Disclaimer
URL: http://www.tcag.ca/projects/databaseDisclaimer.html

Publications:

Publications
More detailed information about this field from each metasource.

The Database of Genomic Variants: a curated collection of structural variation in the human genome
PMID: 24174537
metasource: Fairsharing.org
version: None

http://dx.doi.org/10.1093/nar/gkt958
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657

The Database of Genomic Variants: a curated collection of structural variation in the human genome PubMed citations: 512.

512 articles citing: The Database of Genomic Variants: a curated collection of structural variation in the human genome

ClinPharmSeq: A targeted sequencing panel for clinical pharmacogenetics implementation. PMID:35901010
New Genetic Variants in CYP2B6 and SLC6A Support the Role of Oxidative Stress in Familial Ménière's Disease. PMID:35741759
Diagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two Centers. PMID:35735171
Novel copy number variations within SYCE1 caused meiotic arrest and non-obstructive azoospermia. PMID:35718780
Analysis of TMIE gene mutations including the first large deletion of exon 1 with autosomal recessive non-syndromic deafness. PMID:35710363
A Role for Gene-Environment Interactions in Autism Spectrum Disorder Is Supported by Variants in Genes Regulating the Effects of Exposure to Xenobiotics. PMID:35663546
SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families. PMID:35627139
Experience of Low-Pass Whole-Genome Sequencing-Based Copy Number Variant Analysis: A Survey of Chinese Tertiary Hospitals. PMID:35626254
Whole-Genome Sequencing Identifies PPARGC1A as a Putative Modifier of Cancer Risk in BRCA1/2 Mutation Carriers. PMID:35625955
Recombination affects allele-specific expression of deleterious variants in human populations. PMID:35559670
SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing. PMID:35484572
Bioinformatic Challenges Detecting Genetic Variation in Precision Medicine Programs. PMID:35463004
Inherited and De Novo Variation in Lithuanian Genomes: Introduction to the Analysis of the Generational Shift. PMID:35456375
Genomics, convergent neuroscience and progress in understanding autism spectrum disorder. PMID:35440779
Copy Number Variation Analysis of Euploid Pregnancy Loss. PMID:35401693
16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing. PMID:35388186
Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing. PMID:35347328
National Genome Initiatives in Europe and the United Kingdom in the Era of Whole-Genome Sequencing: A Comprehensive Review. PMID:35328109
Integrating whole-genome sequencing with multi-omic data reveals the impact of structural variants on gene regulation in the human brain. PMID:35288716
Invertebrate Model Organisms as a Platform to Investigate Rare Human Neurological Diseases. PMID:35256540
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies. PMID:35246562
Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil. PMID:35246524
TADA-a machine learning tool for functional annotation-based prioritisation of pathogenic CNVs. PMID:35232478
A Novel Variant of the CHD2 Gene Associated With Developmental Delay and Myoclonic Epilepsy. PMID:35222528
A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics. PMID:35151370
A novel 8.57-kb deletion of the upstream region of PRKAR1A in a family with Carney complex. PMID:35128829
Variant interpretation: UCSC Genome Browser Recommended Track Sets. PMID:35088925
StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants. PMID:35032432
Deletions in VANGL1 are a risk factor for antibody-mediated kidney disease. PMID:35028616
Genomic landscape of Epstein-Barr virus-positive extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue. PMID:34952945
Intellectual disability genomics: current state, pitfalls and future challenges. PMID:34930158
Whole genome sequencing-based copy number variations reveal novel pathways and targets in Alzheimer's disease. PMID:34918867
CNV-P: a machine-learning framework for predicting high confident copy number variations. PMID:34917425
Correlating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by Neurodevelopmental Disorders. PMID:34849274
Diagnosis of Shashi-Pena Syndrome Caused by Chromosomal Rearrangement Using Nanopore Sequencing. PMID:34841066
Revealing Chronic Granulomatous Disease in a Patient With Williams-Beuren Syndrome Using Whole Exome Sequencing. PMID:34804071
Homozygous duplication identified by whole genome sequencing causes LRBA deficiency. PMID:34795304
Comprehensive characterization of copy number variation (CNV) called from array, long- and short-read data. PMID:34789167
Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III-related leukodystrophy and Feingold syndrome. PMID:34737199
Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation. PMID:34694367
Rare Variants in RPPH1 Real-Time Quantitative PCR Control Assay Binding Sites Result in Incorrect Copy Number Calls. PMID:34656763
The dihydropyrimidine dehydrogenase gene contributes to heritable differences in sleep in mice. PMID:34653361
DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects. PMID:34649833
AutoCNV: a semiautomatic CNV interpretation system based on the 2019 ACMG/ClinGen Technical Standards for CNVs. PMID:34615484
A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus. PMID:34610801
Compound Heterozygosity for OTOA Truncating Variant and Genomic Rearrangement Cause Autosomal Recessive Sensorineural Hearing Loss in an Italian Family. PMID:34562879
Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer. PMID:34442375
Position effects at the FGF8 locus are associated with femoral hypoplasia. PMID:34433009
Mutational bias in spermatogonia impacts the anatomy of regulatory sites in the human genome. PMID:34417209
X-CNV: genome-wide prediction of the pathogenicity of copy number variations. PMID:34407882
Genome-wide study of copy number variation implicates multiple novel loci for schizophrenia risk in Han Chinese family trios. PMID:34401673
A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome. PMID:34356064
InvertypeR: Bayesian inversion genotyping with Strand-seq data. PMID:34332539
A comprehensive analysis of copy number variation in a Turkish dementia cohort. PMID:34321086
A comprehensive analysis of SNPs and CNVs identifies novel markers associated with disease outcomes in colorectal cancer. PMID:34309201
Discovery of genomic variation across a generation. PMID:34296264
A Novel Computational Framework to Predict Disease-Related Copy Number Variations by Integrating Multiple Data Sources. PMID:34267783
The conserved ASTN2/BRINP1 locus at 9q33.1-33.2 is associated with major psychiatric disorders in a large pedigree from Southern Spain. PMID:34267256
HBOS-CNV: A New Approach to Detect Copy Number Variations From Next-Generation Sequencing Data. PMID:34163521
Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype. PMID:34145395
Multi-omics profiling of primary small cell carcinoma of the esophagus reveals RB1 disruption and additional molecular subtypes. PMID:34145257
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment. PMID:34135477
Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay. PMID:34117072
Shall genomic correlation structure be considered in copy number variants detection? PMID:34114005
Effects of chromosomal abnormalities on pregnancy outcomes in female undergoing artificial insemination with donor's sperm. PMID:34087851
The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes-A Comprehensive Study of the GJB2/DFNB1 Region. PMID:34062854
Detection of homozygous and hemizygous complete or partial exon deletions by whole-exome sequencing. PMID:34046589
FaNDOM: Fast nested distance-based seeding of optical maps. PMID:34027500
AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis. PMID:34023905
CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients. PMID:34019647
Genome-wide copy number variations in a large cohort of bantu African children. PMID:34001112
Systemic Screening for 22q11.2 Copy Number Variations in Hungarian Pediatric and Adult Patients With Congenital Heart Diseases Identified Rare Pathogenic Patterns in the Region. PMID:33995479
Knowledge bases and software support for variant interpretation in precision oncology. PMID:33971666
Genome-wide detection of CNV regions and their potential association with growth and fatness traits in Duroc pigs. PMID:33964879
Genomic patterns of structural variation among diverse genotypes of Sorghum bicolor and a potential role for deletions in local adaptation. PMID:33950177
Familial Psychosis Associated With a Missense Mutation at MACF1 Gene Combined With the Rare Duplications DUP3p26.3 and DUP16q23.3, Affecting the CNTN6 and CDH13 Genes. PMID:33897758
Re-evaluation of single nucleotide variants and identification of structural variants in a cohort of 45 sudden unexplained death cases. PMID:33895855
A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect. PMID:33891002
Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13. PMID:33879837
A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract. PMID:33867527
Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia. PMID:33863876
Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma. PMID:33827698
A family harboring an MLKL loss of function variant implicates impaired necroptosis in diabetes. PMID:33795639
Prevalence of pathogenic copy number variants among children conceived by donor oocyte. PMID:33762699
Demonstrating the utility of flexible sequence queries against indexed short reads with FlexTyper. PMID:33750951
Confined placental mosaicism involving multiple de novo copy number variants associated with fetal growth restriction: A case report. PMID:33750025
Disruption of CTNND2, encoding delta-catenin, causes a penetrant attention deficit disorder and myopia. PMID:33718894
Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida. PMID:33686259
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data. PMID:33632298
Detecting Causal Variants in Mendelian Disorders Using Whole-Genome Sequencing. PMID:33606250
ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy. PMID:33603162
A random forest-based framework for genotyping and accuracy assessment of copy number variations. PMID:33575619
A genome-wide association study for gut metagenome in Chinese adults illuminates complex diseases. PMID:33563976
Cell-free tumour DNA analysis detects copy number alterations in gastro-oesophageal cancer patients. PMID:33539436
Mitochondrial DNA Content Is Linked to Cardiovascular Disease Patient Phenotypes. PMID:33533264
Germline copy number variations in BRCA1/2 negative families: Role in the molecular etiology of hereditary breast cancer in Tunisia. PMID:33503040
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients. PMID:33492714
MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension. PMID:33452295
Whole genome sequencing of 10K patients with acute ischaemic stroke or transient ischaemic attack: design, methods and baseline patient characteristics. PMID:33443231
Genome diversity in Ukraine. PMID:33438729
nanotatoR: a tool for enhanced annotation of genomic structural variants. PMID:33407088
Copy number variation (CNV) identification, interpretation, and database from Brazilian patients. PMID:33306777
A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification. PMID:33302505
ClassifyCNV: a tool for clinical annotation of copy-number variants. PMID:33230148
Application of Chromosome Microarray Analysis in the Investigation of Developmental Disabilities and Congenital Anomalies: Single Center Experience and Review of NRXN3 and NEDD4L Deletions. PMID:33224013
The UCSC Genome Browser database: 2021 update. PMID:33221922
Gramene 2021: harnessing the power of comparative genomics and pathways for plant research. PMID:33170273
GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort. PMID:33096615
CRISPR-Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes. PMID:33060287
inCNV: An Integrated Analysis Tool for Copy Number Variation on Whole Exome Sequencing. PMID:33029071
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa. PMID:33022222
A study of normal copy number variations in Israeli population. PMID:32980975
Gamma Knife Radiosurgery does not alter the copy number aberration profile in sporadic vestibular schwannoma. PMID:32980934
Review on the Computational Genome Annotation of Sequences Obtained by Next-Generation Sequencing. PMID:32962098
REDBot: Natural language process methods for clinical copy number variation reporting in prenatal and products of conception diagnosis. PMID:32961042
Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency. PMID:32960813
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity. PMID:32960281
Implications of germline copy-number variations in psychiatric disorders: review of large-scale genetic studies. PMID:32958875
Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder. PMID:32918542
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery. PMID:32827758
Mutational landscape and patterns of clonal evolution in relapsed pediatric acute lymphoblastic leukemia. PMID:32793890
Recurrent Rare Copy Number Variants Increase Risk for Esotropia. PMID:32780866
Whole Genome Sequencing of Four Representatives From the Admixed Population of the United Arab Emirates. PMID:32754195
smsMap: mapping single molecule sequencing reads by locating the alignment starting positions. PMID:32753028
Drug-target-ADR Network and Possible Implications of Structural Variants in Adverse Events. PMID:32725965
Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion. PMID:32685350
Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction. PMID:32655646
Discovery of regulatory noncoding variants in individual cancer genomes by using cis-X. PMID:32632335
Loqusdb: added value of an observations database of local genomic variation. PMID:32611382
Structural variation of the malaria-associated human glycophorin A-B-E region. PMID:32600246
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation. PMID:32591635
CONY: A Bayesian procedure for detecting copy number variations from sequencing read depths. PMID:32591545
Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment. PMID:32585897
Inherited duplication of the pseudoautosomal region Xq28 in a subject with Gilles de la Tourette syndrome and intellectual disability: a case report. PMID:32582378
Duplications involving the long range HMX1 enhancer are associated with human isolated bilateral concha-type microtia. PMID:32552830
Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12. PMID:32524056
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress. PMID:32500975
A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability. PMID:32499722
SCDb: an integrated database of stomach cancer. PMID:32487193
Copy Number Variants and Polygenic Risk Scores Predict Need of Care in Autism and/or ADHD Families. PMID:32462456
Mapping and characterization of structural variation in 17,795 human genomes. PMID:32460305
Genomic integrity of human induced pluripotent stem cells across nine studies in the NHLBI NextGen program. PMID:32442913
Establishment and Characterization of a Stromal Cell Line Derived From a Patient With Thoracic Endometriosis. PMID:32430714
Spatio-Temporal Roles of ASD-Associated Variants in Human Brain Development. PMID:32403330
Ancestry and frequency of genetic variants in the general population are confounders in the characterization of germline variants linked to cancer. PMID:32375678
Population-Specific Genetic and Expression Differentiation in Europeans. PMID:32365201
Molecular and clinicopathologic characterization of intravenous leiomyomatosis. PMID:32341498
Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay. PMID:32338762
A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58. PMID:32337552
De novo duplication on Chromosome 19 observed in nuclear family displaying neurodevelopmental disorders. PMID:32321736
Hierarchical discovery of large-scale and focal copy number alterations in low-coverage cancer genomes. PMID:32299346
Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia. PMID:32296054
Copy number variation in human genomes from three major ethno-linguistic groups in Africa. PMID:32272904
MYT1L: A systematic review of genetic variation encompassing schizophrenia and autism. PMID:32267091
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability. PMID:32238909
Exploring the Consistency of the Quality Scores with Machine Learning for Next-Generation Sequencing Experiments. PMID:32219145
Reply to: MIDN locus structural variants and Parkinson's disease risk. PMID:32200577
A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta. PMID:32167558
46,XX Testicular Disorders of Sex Development With DMD Gene Mutation: First Case Report Identified Prenatally by Integrated Analyses in China. PMID:32153624
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders. PMID:32109420
Exome Sequencing in Individuals with Isolated Biliary Atresia. PMID:32066793
Identification of biological mechanisms underlying a multidimensional ASD phenotype using machine learning. PMID:32066720
Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants. PMID:32050993
Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disorders. PMID:32042908
Pan-genomics in the human genome era. PMID:32034321
The contribution of CNVs to the most common aging-related neurodegenerative diseases. PMID:32026430
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion. PMID:32015465
Rapid, Paralog-Sensitive CNV Analysis of 2457 Human Genomes Using QuicK-mer2. PMID:32013076
ATR-16 syndrome: mechanisms linking monosomy to phenotype. PMID:32005695
A novel interstitial deletion of chromosome 2q21.1-q23.3: Case report and literature review. PMID:31989799
The genetics of intellectual disability: advancing technology and gene editing. PMID:31984132
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. PMID:31949314
scRNA-seq assessment of the human lung, spleen, and esophagus tissue stability after cold preservation. PMID:31892341
Deletion in the Cobalamin Synthetase W Domain-Containing Protein 1 Gene Is associated with Congenital Anomalies of the Kidney and Urinary Tract. PMID:31862704
Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease. PMID:31852984
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels. PMID:31839986
Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations. PMID:31837127
Deep whole-genome sequencing of 3 cancer cell lines on 2 sequencing platforms. PMID:31836783
Development of a new methylation-based fetal fraction estimation assay using multiplex ddPCR. PMID:31821748
Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction. PMID:31785787
Analysis of five deep-sequenced trio-genomes of the Peninsular Malaysia Orang Asli and North Borneo populations. PMID:31718558
Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family. PMID:31694657
Genomic integrity of human induced pluripotent stem cells: Reprogramming, differentiation and applications. PMID:31692979
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. PMID:31692161
UCSC Genome Browser enters 20th year. PMID:31691824
A Balanced Translocation in Kallmann Syndrome Implicates a Long Noncoding RNA, RMST, as a GnRH Neuronal Regulator. PMID:31628846
Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease. PMID:31613678
Novel biallelic variants in MSTO1 associated with mitochondrial myopathy. PMID:31604776
Further Clinical and Molecular Delineation of Xp11.22 Deletion Syndrome: A Case Report. PMID:31555424
DNA Copy Number Variations as Markers of Mutagenic Impact. PMID:31554154
Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios. PMID:31552105
Using MARRVEL v1.2 for Bioinformatics Analysis of Human Genes and Variant Pathogenicity. PMID:31524990
Whole Genome Analyses of Chinese Population and De Novo Assembly of A Northern Han Genome. PMID:31494266
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information. PMID:31475990
Copy number variation analysis in 83 children with early-onset developmental and epileptic encephalopathy after targeted resequencing of a 109-epilepsy gene panel. PMID:31471553
Amplification of 9p24.1 in diffuse large B-cell lymphoma identifies a unique subset of cases that resemble primary mediastinal large B-cell lymphoma. PMID:31471540
KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability. PMID:31428438
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks. PMID:31398340
A clinically validated whole genome pipeline for structural variant detection and analysis. PMID:31307387
Association between Copy Number Variation and Response to Social Skills Training in Autism Spectrum Disorder. PMID:31285490
De novo substitutions of TRPM3 cause intellectual disability and epilepsy. PMID:31278393
Calling Star Alleles With Stargazer in 28 Pharmacogenes With Whole Genome Sequences. PMID:31206625
Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome. PMID:31186302
Genome-wide analysis identifies rare copy number variations associated with inflammatory bowel disease. PMID:31185018
Familial segregation of a 5q15-q21.2 deletion associated with facial dysmorphism and speech delay. PMID:31183085
Comprehensive genomic characterization of breast tumors with BRCA1 and BRCA2 mutations. PMID:31182087
Importance of patient selection criteria in determining diagnostic copy number variations in patients with multiple congenital anomaly/mental retardation. PMID:31149029
Comprehensively benchmarking applications for detecting copy number variation. PMID:31136576
De Novo Interstitial Deletion of 9q in a Pediatric Patient With Global Developmental Delay. PMID:31106228
Detection of False-Positive Deletions from the Database of Genomic Variants. PMID:31080831
Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants. PMID:31044088
Impact of Genetic Variation on CRISPR-Cas Targeting. PMID:31021199
Genetic Variations and Precision Medicine. PMID:31019429
Genome-wide Analysis of Common Copy Number Variation and Epithelial Ovarian Cancer Risk. PMID:30948450
A distinct epigenetic program underlies the 1;7 translocation in myelodysplastic syndromes. PMID:30923319
HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum. PMID:30887706
Familial inheritance of the 3q29 microdeletion syndrome: case report and review. PMID:30885185
Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene. PMID:30820038
Unraveling transformation of follicular lymphoma to diffuse large B-cell lymphoma. PMID:30802265
SM-RCNV: a statistical method to detect recurrent copy number variations in sequenced samples. PMID:30779024
ClinTAD: a tool for copy number variant interpretation in the context of topologically associated domains. PMID:30765865
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations. PMID:30763456
Ectopic Otoconin 90 expression in triple negative breast cancer cell lines is associated with metastasis functions. PMID:30763339
Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome. PMID:30761183
Structural variation and fusion detection using targeted sequencing data from circulating cell free DNA. PMID:30759232
Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements. PMID:30735495
Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders. PMID:30732576
Risk gene-set and pathways in 22q11.2 deletion-related schizophrenia: a genealogical molecular approach. PMID:30710087
Integration of genomic copy number variations and chemotherapy-response biomarkers in pediatric sarcoma. PMID:30704460
Neurons with Complex Karyotypes Are Rare in Aged Human Neocortex. PMID:30673605
Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS. PMID:30647093
Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder. PMID:30619482
INDEX-db: The Indian Exome Reference Database (Phase I). PMID:30615482
Constructing a database for the relations between CNV and human genetic diseases via systematic text mining. PMID:30598077
Systematics for types and effects of DNA variations. PMID:30591019
A Hemizygous Deletion Within the PGK1 Gene in Males with PGK1 Deficiency. PMID:30570712
Variation in proviral content among human genomes mediated by LTR recombination. PMID:30568734
Increasing the diagnostic yield of exome sequencing by copy number variant analysis. PMID:30557390
Characterization of iPSCs derived from low grade gliomas revealed early regional chromosomal amplifications during gliomagenesis. PMID:30460631
Chromosome 18 gene dosage map 2.0. PMID:30448861
A comprehensive screening of copy number variability in dementia with Lewy bodies. PMID:30448004
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. PMID:30388402
Deletion in 2q35 excluding the IHH gene leads to fetal severe limb anomalies and suggests a disruption of chromatin architecture. PMID:30374058
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients. PMID:30373198
Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds. PMID:30365510
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature. PMID:30356099
PopHumanScan: the online catalog of human genome adaptation. PMID:30335169
Major changes of cell function and toxicant sensitivity in cultured cells undergoing mild, quasi-natural genetic drift. PMID:30298209
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease. PMID:30293986
Primary constitutional MLH1 epimutations: a focal epigenetic event. PMID:30283143
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis. PMID:30257206
Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition. PMID:30256826
Targeted Genomic Screen Reveals Focal Long Non-Coding RNA Copy Number Alterations in Cancer Cell Lines. PMID:30217017
Linked read technology for assembling large complex and polyploid genomes. PMID:30180802
Rare gene deletions in genetic generalized and Rolandic epilepsies. PMID:30148849
ESCC ATLAS: A population wide compendium of biomarkers for Esophageal Squamous Cell Carcinoma. PMID:30143675
A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility. PMID:30122540
Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho-dento-osseous syndrome. PMID:30095208
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar. PMID:30095202
Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment. PMID:30029624
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. PMID:30019117
Machine Learning for Better Prognostic Stratification and Driver Gene Identification Using Somatic Copy Number Variations in Anaplastic Oligodendroglioma. PMID:30018130
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency. PMID:29995221
SVEngine: an efficient and versatile simulator of genome structural variations with features of cancer clonal evolution. PMID:29982625
Genome-wide copy number variation analysis identifies novel candidate loci associated with pediatric obesity. PMID:29976977
De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness. PMID:29955957
Versatile genome assembly evaluation with QUAST-LG. PMID:29949969
Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements. PMID:29907612
Stargazer: a software tool for calling star alleles from next-generation sequencing data using CYP2D6 as a model. PMID:29875422
Genetics in mainstream medicine: Finally within grasp to influence healthcare globally. PMID:29807392
Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy. PMID:29765130
Genomic analysis identifies masqueraders of full-term cerebral palsy. PMID:29761117
Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory. PMID:29754767
A genome-wide survey of mutations in the Jurkat cell line. PMID:29739316
EAGLE: Explicit Alternative Genome Likelihood Evaluator. PMID:29697369
Small de novo CNVs as biomarkers of parental exposure to low doses of ionizing radiation of caesium-137. PMID:29651024
iCopyDAV: Integrated platform for copy number variations-Detection, annotation and visualization. PMID:29621297
KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses. PMID:29618732
Copy number variation in a hospital-based cohort of children with epilepsy. PMID:29588953
Phase determination using chromosomal microarray and fluorescence in situ hybridization in a patient with early onset Parkinson disease and two deletions in PRKN. PMID:29577677
Circular DNA elements of chromosomal origin are common in healthy human somatic tissue. PMID:29540679
Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice. PMID:29511324
MSeq-CNV: accurate detection of Copy Number Variation from Sequencing of Multiple samples. PMID:29507384
Whole-exome sequencing reveals the origin and evolution of hepato-cholangiocarcinoma. PMID:29497050
Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing. PMID:29483666
Genetics of dementia in a Finnish cohort. PMID:29476165
A genome-wide characterization of copy number variations in native populations of Peninsular Malaysia. PMID:29476164
Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity. PMID:29441128
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants. PMID:29431110
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. PMID:29429572
Comparative genomic analysis of intracranial germ cell tumors - the preliminary study focused on Sonic Hedgehog signaling pathway. PMID:29416433
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies. PMID:29402968
A high throughput screen for active human transposable elements. PMID:29390960
Genomic analysis of head and neck cancer cases from two high incidence regions. PMID:29377909
Use of deep whole-genome sequencing data to identify structure risk variants in breast cancer susceptibility genes. PMID:29325031
A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data. PMID:29304372
A survey of localized sequence rearrangements in human DNA. PMID:29272440
De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients. PMID:29263819
Genomic medicine goes mainstream. PMID:29263800
WISExome: a within-sample comparison approach to detect copy number variations in whole exome sequencing data. PMID:29255179
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations. PMID:29198722
OMSV enables accurate and comprehensive identification of large structural variations from nanochannel-based single-molecule optical maps. PMID:29195502
Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders. PMID:29191242
Identification of large rearrangements in cancer genomes with barcode linked reads. PMID:29186506
Contemporary genetic testing in inherited cardiac disease: tools, ethical issues, and clinical applications. PMID:29176389
Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects. PMID:29141989
Germline copy number variations are associated with breast cancer risk and prognosis. PMID:29116104
A polymorphism in the haptoglobin, haptoglobin related protein locus is associated with risk of human sleeping sickness within Cameroonian populations. PMID:29077717
Lightning-fast genome variant detection with GROM. PMID:29048532
Clinical interpretation of copy number variants in the human genome. PMID:28963714
High resolution measurement of DUF1220 domain copy number from whole genome sequence data. PMID:28807002
Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus. PMID:28790370
Genome-wide copy number variation analysis identified deletions in SFMBT1 associated with fasting plasma glucose in a Han Chinese population. PMID:28789618
Number of RUNX1 mutations, wild-type allele loss and additional mutations impact on prognosis in adult RUNX1-mutated AML. PMID:28751771
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations. PMID:28749477
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability. PMID:28724449
Association between genome-wide copy number variation and arsenic-induced skin lesions: a prospective study. PMID:28720099
Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10. PMID:28670437
Insertionally polymorphic sites of human endogenous retrovirus-K (HML-2) with long target site duplications. PMID:28655292
Prenatal identification of two discontinuous maternally inherited chromosome 7q36.3 microduplications totaling 507 kb including the sonic hedgehog gene in a fetus with multiple congenital anomalies. PMID:28588853
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine. PMID:28567303
Copy-number variants and candidate gene mutations in isolated split hand/foot malformation. PMID:28539665
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome. PMID:28502612
Reliability of algorithmic somatic copy number alteration detection from targeted capture data. PMID:28472276
Small copy-number variations involving genes of the FGF pathway in differences in sex development. PMID:28446957
New Repeat Polymorphism in the AKT1 Gene Predicts Striatal Dopamine D2/D3 Receptor Availability and Stimulant-Induced Dopamine Release in the Healthy Human Brain. PMID:28416594
Survival differences of CIMP subtypes integrated with CNA information in human breast cancer. PMID:28415743
TUFT1, a novel candidate gene for metatarsophalangeal osteoarthritis, plays a role in chondrogenesis on a calcium-related pathway. PMID:28410428
Fetal de novo mutations and preterm birth. PMID:28388617
NGSCheckMate: software for validating sample identity in next-generation sequencing studies within and across data types. PMID:28369524
Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions. PMID:28357155
Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening. PMID:28324009
Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant Validation. PMID:28287439
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome. PMID:28260531
Diversity and regulatory impact of copy number variation in the primate Macaca fascicularis. PMID:28183275
Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23. PMID:28157540
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. PMID:28132692
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. PMID:28132691
digit-a tool for detection and identification of genomic interchromosomal translocations. PMID:28132028
Copy Number Variations in Amyotrophic Lateral Sclerosis: Piecing the Mosaic Tiles Together through a Systems Biology Approach. PMID:28120152
MultiDataSet: an R package for encapsulating multiple data sets with application to omic data integration. PMID:28095799
HDAC10 as a potential therapeutic target in ovarian cancer. PMID:28073598
Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing. PMID:28072833
GenomeCAT: a versatile tool for the analysis and integrative visualization of DNA copy number variants. PMID:28061750
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. PMID:28017372
Intragenic CFTR Duplication and 5T/12TG Variant in a Patient with Non-Classic Cystic Fibrosis. PMID:27996019
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. PMID:27980096
Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders. PMID:27975050
Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders. PMID:27941670
Primary orbital precursor T-cell lymphoblastic lymphoma: Report of a unique case. PMID:27900092
Copy number variability in Parkinson's disease: assembling the puzzle through a systems biology approach. PMID:27896429
An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes. PMID:27882922
A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype. PMID:27840696
Copy number variation analysis reveals additional variants contributing to endometriosis development. PMID:27817035
Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways. PMID:27788187
Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism. PMID:27769252
Germline activating TYK2 mutations in pediatric patients with two primary acute lymphoblastic leukemia occurrences. PMID:27733777
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants. PMID:27708267
Oxford Nanopore MinION Sequencing and Genome Assembly. PMID:27646134
The Role of Constitutional Copy Number Variants in Breast Cancer. PMID:27600231
A Rare Recurrent 4q25 Proximal Deletion Not Involving the PITX2 Gene: A Genomic Disorder Distinct from Axenfeld-Rieger Syndrome. PMID:27587989
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. PMID:27569544
Fast detection of deletion breakpoints using quantitative PCR. PMID:27560363
Copy number variation of genes involved in the hepatitis C virus-human interactome. PMID:27510840
Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2. PMID:27507884
A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2. PMID:27487800
Characterizing polymorphic inversions in human genomes by single-cell sequencing. PMID:27472961
Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis. PMID:27436579
Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta. PMID:27412008
A microRNA-328 binding site in PAX6 is associated with centrotemporal spikes of rolandic epilepsy. PMID:27386500
Transcriptome-wide based identification of miRs in congenital anomalies of the kidney and urinary tract (CAKUT) in children: the significant upregulation of tissue miR-144 expression. PMID:27364533
Generation of KCL033 clinical grade human embryonic stem cell line. PMID:27345988
Generation of KCL031 clinical grade human embryonic stem cell line. PMID:27345813
Generation of KCL034 clinical grade human embryonic stem cell line. PMID:27345810
Generation of KCL040 clinical grade human embryonic stem cell line. PMID:27345807
A genome-wide approach for detecting novel insertion-deletion variants of mid-range size. PMID:27325742
Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases. PMID:27301361
How far from the SNP may the causative genes be? PMID:27269582
High Levels of Sample-to-Sample Variation Confound Data Analysis for Non-Invasive Prenatal Screening of Fetal Microdeletions. PMID:27249650
A pilot study on commonality and specificity of copy number variants in schizophrenia and bipolar disorder. PMID:27244233
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression. PMID:27195815
Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease. PMID:27165007
Interactive Exploration, Analysis, and Visualization of Complex Phenome-Genome Datasets with ASPIREdb. PMID:27158917
Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline. PMID:27148569
CNV analysis in the Lithuanian population. PMID:27142071
CNV analysis in 169 patients with bladder exstrophy-epispadias complex. PMID:27138190
Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype. PMID:27106104
Discovering and understanding oncogenic gene fusions through data intensive computational approaches. PMID:27105842
Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant. PMID:27087319
A PDE3A mutation in familial hypertension and brachydactyly syndrome. PMID:27053290
An Incomplete Understanding of Human Genetic Variation. PMID:27053122
A rare nonsynonymous variant in the lipid metabolic gene HELZ2 related to primary biliary cirrhosis in Chinese Han. PMID:27047549
Gene expression profile analysis of pancreatic cancer based on microarray data. PMID:27035876
An integrated analysis tool for analyzing hybridization intensities and genotypes using new-generation population-optimized human arrays. PMID:27029637
Xp22.33p22.12 Duplication in a Patient with Intellectual Disability and Dysmorphic Facial Features. PMID:26997944
Systematic identification of phenotypically enriched loci using a patient network of genomic disorders. PMID:26980139
Contemporary views on the genetics of anorexia nervosa. PMID:26944296
Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior. PMID:26933844
Copy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarray. PMID:26884814
Genomic sequencing of a dyslexia susceptibility haplotype encompassing ROBO1. PMID:26877820
An oncogenic MYB feedback loop drives alternate cell fates in adenoid cystic carcinoma. PMID:26829750
Tibial hemimelia associated with GLI3 truncation. PMID:26791356
Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. PMID:26788539
cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data. PMID:26764020
Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice. PMID:26755636
Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population. PMID:26742958
Clinical sequencing: is WGS the better WES? PMID:26742503
Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements. PMID:26732513
Deletions of 5' HOXC genes are associated with lower extremity malformations, including clubfoot and vertical talus. PMID:26729820
Joint detection of copy number variations in parent-offspring trios. PMID:26644415
Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape. PMID:26631348
The Molecular Karyotype of 25 Clinical-Grade Human Embryonic Stem Cell Lines. PMID:26607962
Lipid levels in HIV-positive men receiving anti-retroviral therapy are not associated with copy number variation of reverse cholesterol transport pathway genes. PMID:26590594
Lynx: a knowledge base and an analytical workbench for integrative medicine. PMID:26590263
BreCAN-DB: a repository cum browser of personalized DNA breakpoint profiles of cancer genomes. PMID:26586806
Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts. PMID:26561393
Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments. PMID:26561035
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing. PMID:26522830
North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13. PMID:26507665
Gene copy number variation analysis reveals dosage-insensitive expression of CYP2E1. PMID:26503817
Frontofacionasal Dysplasia in a Newborn with a De Novo Duplication of 7p15.2-p15.1. PMID:26495166
GREM1 and POLE variants in hereditary colorectal cancer syndromes. PMID:26493165
Copy number variations in the genome of the Qatari population. PMID:26490036
Kuwaiti population subgroup of nomadic Bedouin ancestry-Whole genome sequence and analysis. PMID:26484159
Array-based comparative genomic hybridization detects copy number variations with prognostic relevance in 80% of ALL with normal karyotype or failed chromosome analysis. PMID:26449660
Copy number variation associates with mortality in long-lived individuals: a genome-wide assessment. PMID:26446717
Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease. PMID:26436107
An integrated map of structural variation in 2,504 human genomes. PMID:26432246
Leveraging long read sequencing from a single individual to provide a comprehensive resource for benchmarking variant calling methods. PMID:26412485
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. PMID:26402605
Novel genetic causes for cerebral visual impairment. PMID:26350515
Computational approaches to study the effects of small genomic variations. PMID:26350246
The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity. PMID:26332131
Genetic, environmental, and epigenetic factors involved in CAKUT. PMID:26281895
Microarray Technology for the Diagnosis of Fetal Chromosomal Aberrations: Which Platform Should We Use? PMID:26237396
Clinically relevant copy number variations detected in cerebral palsy. PMID:26236009
Discriminating somatic and germline mutations in tumor DNA samples without matching normals. PMID:26209359
How to build personalized multi-omics comorbidity profiles. PMID:26157799
Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L. PMID:26076356
A 3.4-kb Copy-Number Deletion near EPAS1 Is Significantly Enriched in High-Altitude Tibetans but Absent from the Denisovan Sequence. PMID:26073780
Genome-wide copy-number variation study of psychosis in Alzheimer's disease. PMID:26035058
Copy number variations and cognitive phenotypes in unselected populations. PMID:26010633
Heterozygous Deletion of KLHL1/ATX8OS at the SCA8 Locus Is Unlikely Associated With Cerebellar Impairment in Humans. PMID:25998497
Human inversions and their functional consequences. PMID:25998059
X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men. PMID:25970010
Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome. PMID:25923536
Whole-genome CNV analysis: advances in computational approaches. PMID:25918519
Copy number variations in high and low fertility breeding boars. PMID:25888238
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. PMID:25877686
Connecting the CNTNAP2 Networks with Neurodevelopmental Disorders. PMID:25852443
Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants. PMID:25827230
Synergistic interactions between Drosophila orthologues of genes spanned by de novo human CNVs support multiple-hit models of autism. PMID:25816101
Comparison of sequencing based CNV discovery methods using monozygotic twin quartets. PMID:25812131
No Evidence that MicroRNAs Coevolve with Genes Located in Copy Number Regions. PMID:25804521
Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry. PMID:25765185
Exome sequencing and array-based comparative genomic hybridisation analysis of preferential 6-methylmercaptopurine producers. PMID:25752523
Whole genome analysis of a Vietnamese trio. PMID:25740146
Rapid detection of structural variation in a human genome using nanochannel-based genome mapping technology. PMID:25671094
Paroxysmal kinesigenic dyskinesia caused by 16p11.2 microdeletion. PMID:25667815
Hidden Markov Model-Based CNV Detection Algorithms for Illumina Genotyping Microarrays. PMID:25657572
A copy number variation map of the human genome. PMID:25645873
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. PMID:25640679
Whole-genome sequencing of quartet families with autism spectrum disorder. PMID:25621899
The genomic landscape of fibrolamellar hepatocellular carcinoma: whole genome sequencing of ten patients. PMID:25605237
A droplet digital PCR detection method for rare L1 insertions in tumors. PMID:25598847
Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios. PMID:25597990
VarSim: a high-fidelity simulation and validation framework for high-throughput genome sequencing with cancer applications. PMID:25524895
19q13.11 microdeletion concomitant with ins(2;19)(p25.3;q13.1q13.4)dn in a boy: potential role of UBA2 in the associated phenotype. PMID:25516771
FocalCall: An R Package for the Annotation of Focal Copy Number Aberrations. PMID:25506197
A high-resolution copy-number variation resource for clinical and population genetics. PMID:25503493
ViVar: a comprehensive platform for the analysis and visualization of structural genomic variation. PMID:25503062
Inter-individual methylation variability in differentially methylated regions between maternal whole blood and first trimester CVS. PMID:25426166
Monoallelic expression of the human FOXP2 speech gene. PMID:25422445
Identification by array comparative genomic hybridization of a new amplicon on chromosome 17q highly recurrent in BRCA1 mutated triple negative breast cancer. PMID:25416589
A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications. PMID:25411581
Species-specific exon loss in human transcriptomes. PMID:25398629
SplitMEM: a graphical algorithm for pan-genome analysis with suffix skips. PMID:25398610
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3. PMID:25351776
Characterization of human chromosomal material exchange with regard to the chromosome translocations using next-generation sequencing data. PMID:25349267
Structural architecture of SNP effects on complex traits. PMID:25307299
Clinical interpretation of CNVs with cross-species phenotype data. PMID:25280750
Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders. PMID:25279985
Systematic assessment of imputation performance using the 1000 Genomes reference panels. PMID:25246238
Copy number variation in Han Chinese individuals with autism spectrum disorder. PMID:25170348
Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis. PMID:25152847
Copy number variation in Thai population. PMID:25118596
Genomic alterations in abnormal neutrophils isolated from adult patients with systemic lupus erythematosus. PMID:25107306
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. PMID:25105227
Endometriosis is associated with rare copy number variants. PMID:25083881
Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature. PMID:25077648
Haploinsufficiency of insulin gene enhancer protein 1 (ISL1) is associated with d-transposition of the great arteries. PMID:25077177
Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray. PMID:25046553
Measurement of absolute copy number variation reveals association with essential hypertension. PMID:25027169
Are copy number variants associated with adolescent idiopathic scoliosis? PMID:25005481
Whole genome and exome sequencing of monozygotic twins discordant for Crohn's disease. PMID:24996980
A pyrosequencing-based assay for the rapid detection of the 22q11.2 deletion in DNA from buccal and dried blood spot samples. PMID:24973633
Genome at juncture of early human migration: a systematic analysis of two whole genomes and thirteen exomes from Kuwaiti population subgroup of inferred Saudi Arabian tribe ancestry. PMID:24896259
Compilation of copy number variants identified in phenotypically normal and parous Japanese women. PMID:24785687
TEMP: a computational method for analyzing transposable element polymorphism in populations. PMID:24753423
Biological relevance of CNV calling methods using familial relatedness including monozygotic twins. PMID:24750645
Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature. PMID:24746958
The distribution of genomic variations in human iPSCs is related to replication-timing reorganization during reprogramming. PMID:24685138
FISH Oracle 2: a web server for integrative visualization of genomic data in cancer research. PMID:24684958
The 8p23 inversion polymorphism determines local recombination heterogeneity across human populations. PMID:24682157
Adult expression of a 3q13.31 microdeletion. PMID:24650298
Quantitative prediction of the effect of genetic variation using hidden Markov models. PMID:24405700
The 2014 Nucleic Acids Research Database Issue and an updated NAR online Molecular Biology Database Collection. PMID:24316579
Implications of copy number variation in people with chromosomal abnormalities: potential for greater variation in copy number state may contribute to variability of phenotype. PMID:22132061
The quest for genetic risk factors for Crohn's disease in the post-GWAS era. PMID:21392414
A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review. PMID:19490635
Copy number variation in the human genome and its implication in autoimmunity. PMID:19220326
Small deletion variants have stable breakpoints commonly associated with alu elements. PMID:18769679
http://dx.doi.org/10.1093/nar/gkt958

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sequence variant
metasource: Fairsharing.org
version: None

human genes and diseases
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657

general polymorphism databases
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657

human genome
metasource: re3data.org
version: re3data.org: Database of Genomic Variants; editing status 2021-08-26; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3NC8H last accessed: 2022-11-04

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Database of Genomic Variants archive (DGVa)

Database of genomic structural VARiation

The Centre for Applied Genomics Databases

DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources

The Autism Chromosome Rearrangement Database

InvFEST

VarSome

The conserved clinical variation visualization tool

European Variation Archive

TIARA - Total Integrated Archive of short-Read and Array

VariCarta

UCSC Genome Browser database

Pharmacogenomics Knowledge Base

HOWDY

Database of Kashiwa Encyclopedia for human genome mutations in Regulatory regions and their Omics contexts

Genoma

Manually Curated Database of Rice Proteins

The Lafora Database

The International Genome Sample Resource

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