coding variant cohort

Aliases

coding variants, damaging coding variants

Related entities (4)

Mentioned in (17)

Papers in which this entity is mentioned.

• Genome modelling and design across all domains of life with Evo 2. (2026)
• Specificity, length and luck drive gene rankings in association studies. (2026)
• Functional analysis of cancer-associated germline risk variants. (2025)
• Yield of genetic association signals from genomes, exomes and imputation in the UK Biobank. (2024)
• Variant interpretation using population databases: Lessons from gnomAD. (2022)
• Principal Component Analyses (PCA)-based findings in population genetic studies are highly biased and must be reevaluated. (2022)
• Genetic correlates of the development of theta event related oscillations in adolescents and young adults. (2017)
• GRIDSS: sensitive and specific genomic rearrangement detection using positional de Bruijn graph assembly. (2017)
• The impact of structural variation on human gene expression. (2017)
• 708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects: analysis for association with psychiatric disorder and cognitive traits. (2014)
• Guidelines for investigating causality of sequence variants in human disease. (2014)
• Genomic landscape of Ewing sarcoma defines an aggressive subtype with co-association of STAG2 and TP53 mutations. (2014)
• A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains. (2013)
• The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation. (2013)
• Annotation of functional variation in personal genomes using RegulomeDB. (2012)
• VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. (2012)
• The genetics of alcohol metabolism: role of alcohol dehydrogenase and aldehyde dehydrogenase variants. (2007)

Merged raw entities (5)

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