Article

Stratifying variant deleteriousness and trait-modulating effect under human recent adaptation

2024-07-17

Abstract excerpt

Despite advances in annotating and interpreting human genetic variants, existing methods to distinguish deleterious/pathogenic from neutral variants still inadequately capture the nuanced impact of genetic variants on fitness and disease susceptibility. In this study, we introduced a new deep learning framework, the FIND model, by stratifying genetic variants into refined categories based on selection pressures an...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: ca3d6d08-896b-5ce5-bd47-7912c3323902
DOI: 10.1101/2024.07.15.603534

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Stratifying variant deleteriousness and trait-modulating effect under human recent adaptationDOI 10.1101/2024.07.15.603534Read

Genetic background shapes AI-predicted variant effectsSemantic proximity Read

Uncovering the extensive trade-off between adaptive evolution and disease susceptibility.Semantic proximity Read

Benchmarking computational variant effect predictors by their ability to infer human traits.Semantic proximity Read

Unified inference of missense variant effects and gene constraints in the human genomeSemantic proximity Read

Probing the aggregated effects of purifying selection per individual on 1,380 medical phenotypes in the UK Biobank.Semantic proximity Read

The landscape of tolerated genetic variation in humans and primatesSemantic proximity Read

Estimation of allele-specific fitness effects across human protein-coding sequences and implications for diseaseSemantic proximity Read

A probabilistic graphical model for estimating selection coefficient of nonsynonymous variants from human population sequence dataSemantic proximity Read

The landscape of tolerated genetic variation in humans and primates.Semantic proximity Read

Ancestry-specific performance of variant effect predictors in clinical variant classificationSemantic proximity Read

Probing the aggregated effects of purifying selection per individual on 1,380 medical phenotypes in the UK biobankSemantic proximity Read

Deciphering signatures of natural selection via deep learningSemantic proximity Read