美国加州大学欧文分校Wei Li等研究人员合作绘制出33万余人的全基因组串联重复扩增图谱。2024年4月5日，《细胞》杂志在线发表了这一研究成果。

研究人员表示，基因组聚合数据库（gnomAD）被公认为人类遗传变异的黄金标准参考图谱，但它在很大程度上忽略了串联重复（TR）扩增，尽管TR占人类基因组的6%，并与50多种人类疾病相关。

研究人员介绍了TR-gnomAD（https://wlcb.oit.uci.edu/TRgnomAD），这是一个生物库规模的0.86亿个TR参考，来自338963个不同血统的全基因组测序（WGS）样本（39.5%为非欧洲样本）。TR-gnomAD利用不同祖先之间TR单位数频率的差异，为了解特定祖先的疾病患病率提供了重要信息。此外，TR-gnomAD还能区分常见的、可能是良性的TR扩增（在TR-gnomAD中普遍存在）和潜在的致病性TR扩增（在疾病群体中比在TR-gnomAD中发现得更频繁）。

总之，TR-gnomAD是研究人员和医生解释遗传疾病患者TR扩增的宝贵资源。

附：英文原文

Title: A genome-wide spectrum of tandem repeat expansions in 338,963 humans

Author: Ya Cui, Wenbin Ye, Jason Sheng Li, Jingyi Jessica Li, Eric Vilain, Tamer Sallam, Wei Li

Issue&Volume: 2024-04-05

Abstract: The Genome Aggregation Database (gnomAD), widely recognized as the gold-standard reference map of human genetic variation, has largely overlooked tandem repeat (TR) expansions, despite the fact that TRs constitute ～6% of our genome and are linked to over 50 human diseases. Here, we introduce the TR-gnomAD (https://wlcb.oit.uci.edu/TRgnomAD), a biobank-scale reference of 0.86 million TRs derived from 338,963 whole-genome sequencing (WGS) samples of diverse ancestries (39.5% non-European samples). TR-gnomAD offers critical insights into ancestry-specific disease prevalence using disparities in TR unit number frequencies among ancestries. Moreover, TR-gnomAD is able to differentiate between common, presumably benign TR expansions, which are prevalent in TR-gnomAD, from those potentially pathogenic TR expansions, which are found more frequently in disease groups than within TR-gnomAD. Together, TR-gnomAD is an invaluable resource for researchers and physicians to interpret TR expansions in individuals with genetic diseases.

DOI: 10.1016/j.cell.2024.03.004

Source: https://www.cell.com/cell/fulltext/S0092-8674(24)00252-6