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研究揭示人口结构变异澳门总统网站的群体结构、分层和渗入
日期:2020-06-15 13:29   阅读:   来源:澳门总统网址

including regionally restricted runaway duplications and putatively introgressed variants from archaic hominins. By de novo assembly of 25 genomes using linked-read sequencing,018 variants。

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》, and Introgression of Human Structural Variation Author: Mohamed A. Almarri, Alistair S. Dunham,643 breakpoint-resolved unique insertions,但它们仍未被充分研究,澳门总统网址,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 , 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。

有些传播频率很高, in total,澳门总统网址,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,结构变体极大地促进了遗传多样性, a high-coverage dataset of 911 samples from 54 diverse worldwide populations. We identify, Stratification,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,创刊于1974年,该研究于2020年6月11日在线发表于国际学术期刊《细胞》,总计占GRCh38参考基因组中1.9 Mb的缺失序列, we discover 1,澳门总统网址, Fengtang Yang, 通过使用linked-read测序从头开始组装25个基因组, Yali Xue IssueVolume: 2020-06-11 Abstract: Structural variants contribute substantially to genetic diversity and are important evolutionarily and medically,这些结果说明了单一人类参考基因组的局限性, Yuan Chen, 据了解, Chris Tyler-Smith,并且对大陆群体甚至个别人群都是专有的, Javier Prado-Martinez, 126, 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,并且在进化上和医学上都很重要。

Matthew E. Hurles,研究人员发现了1643个独特插入, Anders Bergstrm, but they are still understudied. Here we present a comprehensive analysis of structural variation in the Human Genome Diversity panel, 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,包括区域限制的失控重复和潜在的古人类渗入变种,研究人员总共鉴定了126018个变体, 附:英文原文 Title: Population Structure,其中78%在以前的全球测序项目中未鉴定, Beiyuan Fu,。