Properties of human genes guided by their enrichment in rare and common variants
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Summary
Genetic variants in these genes are strong candidates for disease and their identification, as part of sequencing studies, should prompt further in vitro analyses.
- Type
- article
- Published
- 2017-12-21
- Cited by
- 13
- References
- 36
- Access
- Open access
- OpenAlex
- https://openalex.org/W2773184276
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:3884999
Keywords
Biology, Gene, UniProt, Genetics, Allele
References
- HGCS: an online tool for prioritizing disease-causing gene variants by biological distance
- Gene Ontology Consortium: going forward
- The human gene damage index as a gene-level approach to prioritizing exome variants
- Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- Network Properties of Complex Human Disease Genes Identified through Genome-Wide Association Studies
- Exome sequencing identifies GRIN2A as frequently mutated in melanoma
- A method and server for predicting damaging missense mutations
- Network Medicine: A Network-based Approach to Human Disease
- Rare-variant association analysis: study designs and statistical tests.
- OGEE: an online gene essentiality database
- Interpretation of Genomic Variants Using a Unified Biological Network Approach
- The human gene connectome as a map of short cuts for morbid allele discovery
- Prioritizing genes for X-linked diseases using population exome data.
- Controlling the false discovery rate: a practical and powerful approach to multiple testing
- Null mutations in human and mouse orthologs frequently result in different phenotypes
- dbSNP: the NCBI database of genetic variation
- The genomic and functional characteristics of disease genes
- A framework for the interpretation of de novo mutation in human disease
- A general framework for estimating the relative pathogenicity of human genetic variants
Cited by
- Missense variants in health and disease affect distinct functional pathways and proteomics features
- Can Predicted Protein 3D Structures Provide Reliable Insights into whether Missense Variants Are Disease Associated?
- Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality
- Protein–Protein Interactions Mediated by Intrinsically Disordered Protein Regions Are Enriched in Missense Mutations
- A mutation in DOP1B identified as a probable cause for autosomal recessive Peters anomaly in a consanguineous family
- Pathogenic missense protein variants affect different functional pathways and proteomic features than healthy population variants
- Targeted resequencing showing novel common and rare genetic variants increases the risk of asthma in the Chinese Han population
- Emerging perspectives on multidomain phosphatidylinositol transfer proteins
- The “dark matter” of protein variants carries a distinct DNA signature and predicts damaging variant effects
- Whole-exome Sequencing Analysis of a Japanese Patient With Hyperinsulinemia and Liver Dysfunction
- Protein structure-based evaluation of missense variants: Resources, challenges and future directions.
- Structural and functional prediction, evaluation, and validation in the post-sequencing era
- Shared Disease Mechanisms in Neurodevelopmental Disorders: A Cellular and Molecular Biology Perspective
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