Data-driven modelling of mutational hotspots and in silico predictors in hypertrophic cardiomyopathy

BACKGROUND: Although rare missense variants in Mendelian disease genes often cluster in specific regions of proteins, it is unclear how to consider this when evaluating the pathogenicity of a gene or variant. Here we introduce methods for gene association and variant interpretation that use this pow...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Med Genet
Prif Awduron: Waring, Adam, Harper, Andrew, Salatino, Silvia, Kramer, Christopher, Neubauer, Stefan, Thomson, Kate, Watkins, Hugh, Farrall, Martin
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Publishing Group 2021
Pynciau:
Methods
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC8327322/
https://ncbi.nlm.nih.gov/pubmed/32732227
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2020-106922
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