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                美国迷信家绘制SV参考图谱,对群体遗传学等研讨奉献宏大

                2020-05-29 19:34泉源:迷信网
                导读:该SV资源可经过gnomAD阅读器自在分派,并将在群体遗传学、疾病联系关系研讨和诊断筛查中具有普遍的用处。

                科技号音讯,克日,美国麻省理工学院和哈佛大学普遍研讨所Michael E. Talkowski研讨团队获得一项新打破。他们构建了医学和群体遗传学的构造变异(SV)参考。该项研讨效果宣布在2020年5月27日出书的《天然》杂志上。

                他们引见了基因组聚合数据库(gnomAD)中由环球差别群体(54%非欧洲人)的14,891个基因组构建的序列剖析SV的参考。他们发明了433,371个SV的丰厚而庞大图谱,据此他们估量SV占每个基因组一切稀有卵白质截短事情的25-29%。他们发明天然选择与毁坏性单核苷酸变异(SNV)和毁坏或复制卵白质编码序列的有数SV之间有很强的相干性,这标明对功用丧失高度不耐受的基因也对剂量添加敏感。

                他们还发明了顺式调控元件中针对非编码SV的过度选择,虽然针对卵白质截短SV的选择比一切非编码结果都强。最初,他们在3.9%的样本中发明了十分大(超越1兆碱基)的有数SV,并估量有0.13%的携带SV的集体契合临床上紧张的偶尔发明的现有规范。该SV资源可经过gnomAD阅读器自在分派,并将在群体遗传学、疾病联系关系研讨和诊断筛查中具有普遍的用处。

                据理解,SV重新陈列了DNA的大片断,能够对退化和人类疾病发生深远的影响。随着国度生物银行、疾病联系关系研讨和临床基因测试越来越依赖于基因组测序,诸如gnomAD之类的群体参考材料已成为SNV正文的构成局部。但是,尚无与SNV相比可比的高掩盖度基因组测序的SV参考图谱。

                附:英文原文

                Title: A structural variation reference for medical and population genetics

                Author: Ryan L. Collins, Harrison Brand, Konrad J. Karczewski, Xuefang Zhao, Jessica Alfldi, Laurent C. Francioli, Amit V. Khera, Chelsea Lowther, Laura D. Gauthier, Harold Wang, Nicholas A. Watts, Matthew Solomonson, Anne ODonnell-Luria, Alexander Baumann, Ruchi Munshi, Mark Walker, Christopher W. Whelan, Yongqing Huang, Ted Brookings, Ted Sharpe, Matthew R. Stone, Elise Valkanas, Jack Fu, Grace Tiao, Kristen M. Laricchia, Valentin Ruano-Rubio, Christine Stevens, Namrata Gupta, Caroline Cusick, Lauren Margolin, Kent D. Taylor, Henry J. Lin, Stephen S. Rich, Wendy S. Post, Yii-Der Ida Chen, Jerome I. Rotter, Chad Nusbaum, Anthony Philippakis, Eric Lander, Stacey Gabriel, Benjamin M. Neale, Sekar Kathiresan, Mark J. Daly, Eric Banks, Daniel G. MacArthur, Michael E. Talkowski

                Issue&Volume: 2020-05-27

                Abstract: Structural variants (SVs) rearrange large segments of DNA1 and can have profound consequences in evolution and human disease2,3. As national biobanks, disease-association studies, and clinical genetic testing have grown increasingly reliant on genome sequencing, population references such as the Genome Aggregation Database (gnomAD)4 have become integral in the interpretation of single-nucleotide variants (SNVs)5. However, there are no reference maps of SVs from high-coverage genome sequencing comparable to those for SNVs. Here we present a reference of sequence-resolved SVs constructed from 14,891 genomes across diverse global populations (54% non-European) in gnomAD. We discovered a rich and complex landscape of 433,371 SVs, from which we estimate that SVs are responsible for 25–29% of all rare protein-truncating events per genome. We found strong correlations between natural selection against damaging SNVs and rare SVs that disrupt or duplicate protein-coding sequence, which suggests that genes that are highly intolerant to loss-of-function are also sensitive to increased dosage6. We also uncovered modest selection against noncoding SVs in cis-regulatory elements, although selection against protein-truncating SVs was stronger than all noncoding effects. Finally, we identified very large (over one megabase), rare SVs in 3.9% of samples, and estimate that 0.13% of individuals may carry an SV that meets the existing criteria for clinically important incidental findings7. This SV resource is freely distributed via the gnomAD browser8 and will have broad utility in population genetics, disease-association studies, and diagnostic screening.

                DOI: 10.1038/s41586-020-2287-8

                Source: http://www.nature.com/articles/s41586-020-2287-8 

                期刊信息

                Nature:《天然》,创刊于1869年。从属于施普林格·天然出书团体,最新IF:43.07
                官方网址:http://www.nature.com/
                投稿链接:http://www.nature.com/authors/submit_manuscript.html

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