Investigating the dark-side of the genome: a barrier to human disease variant discovery?

Biological Research

Short Report

Niamh M. Ryan¹  Aiden Corvin¹ 

[1] Neuropsychiatric Genetics Research Group, Department of Psychiatry, Trinity College Dublin, Dublin, Ireland;

关键词: Short-read sequencing;    Dark regions;    Gene-disease associations;   

DOI  :  10.1186/s40659-023-00455-0

 received in 2022-11-24, accepted in 2023-07-11,  发布年份 2023

来源: Springer

【 摘 要 】

The human genome contains regions that cannot be adequately assembled or aligned using next generation short-read sequencing technologies. More than 2500 genes are known contain such ‘dark’ regions. In this study, we investigate the negative consequences of dark regions on gene discovery across a range of disease and study types, showing that dark regions are likely preventing researchers from identifying genetic variants relevant to human disease.

【 授权许可】

CC BY   
© The Author(s) 2023

【 图 表 】

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