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Detecting X-linked common and rare variant effects in family-based sequencing studies.

Genetic epidemiology - 1 Feb 2021

Turkmen Asuman S, Lin Shili

Abstract excerpt

The breakthroughs in next generation sequencing have allowed us to access data consisting of both common and rare variants, and in particular to investigate the impact of rare genetic variation on complex diseases. Although rare genetic variants are thought to be important components in explaining genetic mechanisms of many diseases, discovering these variants remains challenging, and most studies are restricted...

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PMID: 32864779
DOI: 10.1002/gepi.22352

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