ESP
NHLBI Exome Sequencing Project (ESP): Exome Variant Server (EVS) for browsing single nucleotide variation data from exome sequencing experiments mainly focused on heart, lung and blood disorders.
Description
More detailed information about this field from each metasource.
NHLBI Exome Sequencing Project (ESP): Exome Variant Server (EVS) for browsing single nucleotide variation data from exome sequencing experiments mainly focused on heart, lung and blood disorders.
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:27:06.364802
Webpage:
http://evs.gs.washington.edu/EVS/Webpage
More detailed information about this field from each metasource.
http://evs.gs.washington.edu/EVS/
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:27:06.364802
Publications:
Publications
More detailed information about this field from each metasource.
Databases of genomic variation and phenotypes: existing resources and future needs
PMID: 23962721
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:06.364802
Publications
More detailed information about this field from each metasource.
Databases of genomic variation and phenotypes: existing resources and future needs
PMID: 23962721
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:06.364802
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Databases of genomic variation and phenotypes: existing resources and future needs
PubMed citations: 27.
27 articles citing: Databases of genomic variation and phenotypes: existing resources and future needs
GPCards: An integrated database of genotype-phenotype correlations in human genetic diseases. PMID:33868597
Mutation Screening of mtDNA Combined Targeted Exon Sequencing in a Cohort With Suspected Hereditary Optic Neuropathy. PMID:32855858
Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations. PMID:31944634
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias. PMID:31073229
Haplosaurus computes protein haplotypes for use in precision drug design. PMID:30297836
CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency. PMID:29997612
MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases. PMID:29704307
Proficiency of data interpretation: identification of signaling SNPs/specific loci for coronary artery disease. PMID:29220472
HUMA: A platform for the analysis of genetic variation in humans. PMID:28967693
India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin. PMID:28655339
DEOGEN2: prediction and interactive visualization of single amino acid variant deleteriousness in human proteins. PMID:28498993
Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory. PMID:28408614
A comprehensive global genotype-phenotype database for rare diseases. PMID:28116331
Public variant databases: liability? PMID:27977006
Integrating Genomic Data Sets for Knowledge Discovery: An Informed Approach to Management of Captive Endangered Species. PMID:27376076
Human genotype-phenotype databases: aims, challenges and opportunities. PMID:26553330
DIDA: A curated and annotated digenic diseases database. PMID:26481352
Computational approaches to study the effects of small genomic variations. PMID:26350246
Pragmatic and Ethical Challenges of Incorporating the Genome into the Electronic Medical Record. PMID:26146597
Developing genomic knowledge bases and databases to support clinical management: current perspectives. PMID:25276091
Available resources and challenges for the clinical annotation of somatic variations. PMID:25111663
IthaGenes: an interactive database for haemoglobin variations and epidemiology. PMID:25058394
Living laboratory: whole-genome sequencing as a learning healthcare enterprise. PMID:25045831
Enhancing the incidental pipeline in genomic sequencing. PMID:24715850
Implementation of biomarker-driven cancer therapy: existing tools and remaining gaps. PMID:24534473
Teaching genomic counseling: preparing the genetic counseling workforce for the genomic era. PMID:24504939
Molecular genetic epidemiology of human diseases: from patterns to predictions. PMID:24241280
Tags:
Tags
More detailed information about this field from each metasource.
exome sequencing
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:06.364802
haematology
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:06.364802
genetic variation
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:06.364802
genotype and phenotype
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:06.364802
pathology
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:06.364802
respiratory medicine
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:06.364802
rare diseases
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:06.364802
Tags
More detailed information about this field from each metasource.
exome sequencing
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:27:06.364802
haematology
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:27:06.364802
genetic variation
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:27:06.364802
genotype and phenotype
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:27:06.364802
pathology
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:27:06.364802
respiratory medicine
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:27:06.364802
rare diseases
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:27:06.364802
exome sequencing haematology genetic variation genotype and phenotype pathology respiratory medicine rare diseases
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