研究揭示人口结构变异澳门永利网址的群体结构、分层和渗入2020-06-15 16:03

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本期文章:《细胞》:Online/在线发表

英国威康桑格研究所Yali Xue、Mohamed A. Almarri等研究人员合作揭示人类结构变异的群体结构、分层和渗入。该研究于2020年6月11日在线发表于国际学术期刊《细胞》。

研究人员对人类基因组多样性数据库中的结构变异进行了全面分析,澳门永利官网,这一数据库是来自54个全球不同人群的911个样本的高覆盖数据集。研究人员总共鉴定了126018个变体,其中78%在以前的全球测序项目中未鉴定。有些传播频率很高,并且对大陆群体甚至个别人群都是专有的,包括区域限制的失控重复和潜在的古人类渗入变种。

 

通过使用linked-read测序从头开始组装25个基因组,研究人员发现了1643个独特插入,总计占GRCh38参考基因组中1.9 Mb的缺失序列。这些结果说明了单一人类参考基因组的局限性,并且需要来自不同人群的高质量基因组来充分发现和理解人类遗传变异。

 

据了解,澳门永利网址,结构变体极大地促进了遗传多样性,澳门永利网址,并且在进化上和医学上都很重要,但它们仍未被充分研究。

 

附:英文原文

Title: Population Structure, Stratification, and Introgression of Human Structural Variation

Author: Mohamed A. Almarri, Anders Bergstrm, Javier Prado-Martinez, Fengtang Yang, Beiyuan Fu, Alistair S. Dunham, Yuan Chen, Matthew E. Hurles, Chris Tyler-Smith, Yali Xue

Issue&Volume: 2020-06-11

Abstract: Structural variants contribute substantially to genetic diversity and are important evolutionarily and medically, but they are still understudied. Here we present a comprehensive analysis of structural variation in the Human Genome Diversity panel, a high-coverage dataset of 911 samples from 54 diverse worldwide populations. We identify, in total, 126,018 variants, 78% of which were not identified in previous global sequencing projects. Some reach high frequency and are private to continental groups or even individual populations, including regionally restricted runaway duplications and putatively introgressed variants from archaic hominins. By de novo assembly of 25 genomes using linked-read sequencing, we discover 1,643 breakpoint-resolved unique insertions, in aggregate accounting for 1.9 Mb of sequence absent from the GRCh38 reference. Our results illustrate the limitation of a single human reference and the need for high-quality genomes from diverse populations to fully discover and understand human genetic variation.

DOI: 10.1016/j.cell.2020.05.024

Source: https://www.cell.com/cell/fulltext/S0092-8674(20)30619-X

期刊信息

Cell:《细胞》,创刊于1974年。隶属于细胞出版社,最新IF:36.216

官方网址:https://www.cell.com/

投稿链接:https://www.editorialmanager.com/cell/default.aspx


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