Article

Estimation of allele-specific fitness effects across human protein-coding sequences and implications for disease

2018-10-13

Abstract excerpt

A central challenge in human genomics is to understand the cellular, evolutionary, and clinical significance of genetic variants. Here we introduce a unified population-genetic and machine-learning model, called L inear A llele- S pecific S election I nferenc E ( LASSIE ), for estimating the fitness effects of all potential single-nucleotide variants, based on polymorphism data and predictive genomic featur...

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Literature Corpus work: 89dc600c-a7d8-51b6-86bd-2ca18b6b36ea
DOI: 10.1101/441337

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