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人类组织转录组特征鉴定出功能性的罕见基因变

文章来源:    时间:2020-09-12

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本期文章:《科学》:Volume 369 Issue 6509

美国约翰霍普金斯大学Alexis Battle等研究人员合作利用不同的人类组织转录组特征鉴定出功能性的罕见基因变异。2020年9月11日,《科学》发表了这一成果。

通过分析基因表达、等位基因特异性表达以及多组织RNA测序数据的可变剪接,研究人员扩展了对基因驱动的转录组异常的检测,并证明了每种信号都可以指导稀有变异(RV)的独特分类。

研究人员开发了Watershed(概率模型),该模型整合了多个基因组和转录组信号来预测变异功能;在其他队列中以及通过实验分析验证了这些预测,并在英国生物银行、百万退伍军人计划和杰克逊心脏研究中将其用于评估RV。

这些研究结果将成千上万的RV联系到到各种分子效应,并提供证据将RV影响的转录组与人类特征相关联。

据介绍,稀有的遗传变异在整个人类基因组中都很丰富,要确定其功能和表型影响是一项重大挑战。异常基因表达的测量有助于鉴定功能性的、有效的RV。 

附:英文原文

Title: Transcriptomic signatures across human tissues identify functional rare genetic variation

Author: Nicole M. Ferraro, Benjamin J. Strober, Jonah Einson, Nathan S. Abell, Francois Aguet, Alvaro N. Barbeira, Margot Brandt, Maja Bucan, Stephane E. Castel, Joe R. Davis, Emily Greenwald, Gaelen T. Hess, Austin T. Hilliard, Rachel L. Kember, Bence Kotis, YoSon Park, Gina Peloso, Shweta Ramdas, Alexandra J. Scott, Craig Smail, Emily K. Tsang, Seyedeh M. Zekavat, Marcello Ziosi, Aradhana, TOPMed Lipids Working Group, Kristin G. Ardlie, Themistocles L. Assimes, Michael C. Bassik, Christopher D. Brown, Adolfo Correa, Ira Hall, Hae Kyung Im, Xin Li, Pradeep Natarajan, GTEx Consortium, Tuuli Lappalainen, Pejman Mohammadi, Stephen B. Montgomery, Alexis Battle

Issue&Volume: 2020/09/11

Abstract: Rare genetic variants are abundant across the human genome, and identifying their function and phenotypic impact is a major challenge. Measuring aberrant gene expression has aided in identifying functional, large-effect rare variants (RVs). Here, we expanded detection of genetically driven transcriptome abnormalities by analyzing gene expression, allele-specific expression, and alternative splicing from multitissue RNA-sequencing data, and demonstrate that each signal informs unique classes of RVs. We developed Watershed, a probabilistic model that integrates multiple genomic and transcriptomic signals to predict variant function, validated these predictions in additional cohorts and through experimental assays, and used them to assess RVs in the UK Biobank, the Million Veterans Program, and the Jackson Heart Study. Our results link thousands of RVs to diverse molecular effects and provide evidence to associate RVs affecting the transcriptome with human traits.

DOI: 10.1126/science.aaz5900

Source: https://science.sciencemag.org/content/369/6509/eaaz5900

期刊信息

Science:《科学》,创刊于1880年。隶属于美国科学促进会,最新IF:41.037

官方网址:https://www.sciencemag.org/

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