Article

RetroFun-RVS: a retrospective family-based framework for rare variant analysis incorporating functional annotations

2022-06-26

Abstract excerpt

A large proportion of genetic variations involved in complex diseases are rare and located within non-coding regions, making the interpretation of underlying biological mechanisms a daunting task. Although technical and methodological progresses have been made to annotate the genome, current disease - rare-variant association tests incorporating such annotations suffer from two major limitations. Firstly, they are...

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Literature Corpus work: 1461d251-43de-5880-8a05-c9e8836d79ae
DOI: 10.1101/2022.06.21.497085

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