Gene4Denovo
an integrated database and analytic platform for de novo mutations in humans. De novo mutations (DNMs) significantly contribute to sporadic diseases, particularly in neuropsychiatric disorders. Whole-exome sequencing (WES) and whole-genome sequencing (WGS) provide effective methods for detecting DNMs and prioritizing candidate genes. However, it remains a challenge for scientists, clinicians, and biologists to conveniently access and analyse data regarding DNMs and candidate genes from scattered publications. To fill the unmet need, we integrated 580 799 DNMs, including 30 060 coding DNMs detected by WES WGS from 23 951 individuals across 24 phenotypes and prioritized a list of candidate genes with different degrees of statistical evidence, including 346 genes with false discovery rates <0.05. We then developed a database called Gene4Denovo (http: www.genemed.tech gene4denovo ), which allowed these genetic data to be conveniently catalogued, searched, browsed, and analysed
Description
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an integrated database and analytic platform for de novo mutations in humans. De novo mutations (DNMs) significantly contribute to sporadic diseases, particularly in neuropsychiatric disorders. Whole-exome sequencing (WES) and whole-genome sequencing (WGS) provide effective methods for detecting DNMs and prioritizing candidate genes. However, it remains a challenge for scientists, clinicians, and biologists to conveniently access and analyse data regarding DNMs and candidate genes from scattered publications. To fill the unmet need, we integrated 580 799 DNMs, including 30 060 coding DNMs detected by WES WGS from 23 951 individuals across 24 phenotypes and prioritized a list of candidate genes with different degrees of statistical evidence, including 346 genes with false discovery rates <0.05. We then developed a database called Gene4Denovo (http: www.genemed.tech gene4denovo ), which allowed these genetic data to be conveniently catalogued, searched, browsed, and analysed
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:29:50.564018
Webpage:
http://www.genemed.tech/gene4denovo/Webpage
More detailed information about this field from each metasource.
http://www.genemed.tech/gene4denovo/
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:29:50.564018
Publications:
Publications
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Gene4Denovo: an integrated database and analytic platform for de novo mutations in humans
PMID: 31642496
metasource: bio.tools
version: extracted_at: 2022-11-04T11:29:50.564018
Publications
More detailed information about this field from each metasource.
Gene4Denovo: an integrated database and analytic platform for de novo mutations in humans
PMID: 31642496
metasource: bio.tools
version: extracted_at: 2022-11-04T11:29:50.564018
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Gene4Denovo: an integrated database and analytic platform for de novo mutations in humans
PubMed citations: 16.
16 articles citing: Gene4Denovo: an integrated database and analytic platform for de novo mutations in humans
Signatures of TOP1 transcription-associated mutagenesis in cancer and germline. PMID:35140396
CircleBase: an integrated resource and analysis platform for human eccDNAs. PMID:34792166
Gene4HL: An Integrated Genetic Database for Hearing Loss. PMID:34733322
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data. PMID:34075210
Gene4PD: A Comprehensive Genetic Database of Parkinson's Disease. PMID:33981200
Cross-Disorder Analysis of De Novo Mutations in Neuropsychiatric Disorders. PMID:33970367
GPCards: An integrated database of genotype-phenotype correlations in human genetic diseases. PMID:33868597
Gene4MND: An Integrative Genetic Database and Analytic Platform for Motor Neuron Disease. PMID:33867934
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders. PMID:33860439
Cross-Disorder Analysis of De Novo Variants Increases the Power of Prioritising Candidate Genes. PMID:33809095
DECO: a framework for jointly analyzing de novo and rare case/control variants, and biological pathways. PMID:33791774
De novo mutations in folate-related genes associated with common developmental disorders. PMID:33777337
Integration of the Drug-Gene Interaction Database (DGIdb 4.0) with open crowdsource efforts. PMID:33237278
Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder. PMID:33023636
Research advances on neurite outgrowth inhibitor B receptor. PMID:32542927
Genetic evidence of gender difference in autism spectrum disorder supports the female-protective effect. PMID:32066658
Tags:
Tags
More detailed information about this field from each metasource.
whole genome sequencing
metasource: bio.tools
version: extracted_at: 2022-11-04T11:29:50.564018
exome sequencing
metasource: bio.tools
version: extracted_at: 2022-11-04T11:29:50.564018
genotype and phenotype
metasource: bio.tools
version: extracted_at: 2022-11-04T11:29:50.564018
genetic variation
metasource: bio.tools
version: extracted_at: 2022-11-04T11:29:50.564018
rna-seq
metasource: bio.tools
version: extracted_at: 2022-11-04T11:29:50.564018
Tags
More detailed information about this field from each metasource.
whole genome sequencing
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:29:50.564018
exome sequencing
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:29:50.564018
genotype and phenotype
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:29:50.564018
genetic variation
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:29:50.564018
rna-seq
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:29:50.564018
whole genome sequencing exome sequencing genotype and phenotype genetic variation rna sequence
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