Article

A statistical framework for mapping risk genes from <i>de novo</i> mutations in whole-genome sequencing studies

2016-09-26

Abstract excerpt

Analysis of de novo mutations (DNMs) from sequencing data of nuclear families has identified risk genes for many complex diseases, including multiple neurodevelopmental and psychiatric disorders. Most of these efforts have focused on mutations in protein-coding sequences. Evidence from genome-wide association studies (GWAS) strongly suggests that variants important to human diseases often lie in non-coding region...

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Literature Corpus work: 092a0d6d-5e28-597c-ae03-ae20327bba5e
DOI: 10.1101/077578

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