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使用RASQUAL和ATAC-seq对细胞数量性状基因座进行精细定位。

Fine-mapping cellular QTLs with RASQUAL and ATAC-seq.

作者信息

Kumasaka Natsuhiko, Knights Andrew J, Gaffney Daniel J

机构信息

Wellcome Trust Sanger Institute, Wellcome Genome Campus, Cambridge, UK.

出版信息

Nat Genet. 2016 Feb;48(2):206-13. doi: 10.1038/ng.3467. Epub 2015 Dec 14.

Abstract

When cellular traits are measured using high-throughput DNA sequencing, quantitative trait loci (QTLs) manifest as fragment count differences between individuals and allelic differences within individuals. We present RASQUAL (Robust Allele-Specific Quantitation and Quality Control), a new statistical approach for association mapping that models genetic effects and accounts for biases in sequencing data using a single, probabilistic framework. RASQUAL substantially improves fine-mapping accuracy and sensitivity relative to existing methods in RNA-seq, DNase-seq and ChIP-seq data. We illustrate how RASQUAL can be used to maximize association detection by generating the first map of chromatin accessibility QTLs (caQTLs) in a European population using ATAC-seq. Despite a modest sample size, we identified 2,707 independent caQTLs (at a false discovery rate of 10%) and demonstrated how RASQUAL and ATAC-seq can provide powerful information for fine-mapping gene-regulatory variants and for linking distal regulatory elements with gene promoters. Our results highlight how combining between-individual and allele-specific genetic signals improves the functional interpretation of noncoding variation.

摘要

当使用高通量DNA测序测量细胞特征时,数量性状基因座(QTL)表现为个体间片段计数差异以及个体内等位基因差异。我们提出了RASQUAL(稳健的等位基因特异性定量与质量控制),这是一种用于关联作图的新统计方法,它使用单一的概率框架对遗传效应进行建模并解释测序数据中的偏差。相对于RNA测序、DNase测序和ChIP测序数据中的现有方法,RASQUAL大大提高了精细定位的准确性和灵敏度。我们展示了如何通过使用ATAC测序在欧洲人群中生成第一张染色质可及性QTL(caQTL)图谱,来利用RASQUAL最大化关联检测。尽管样本量适中,但我们鉴定出了2707个独立的caQTL(错误发现率为10%),并展示了RASQUAL和ATAC测序如何能够为精细定位基因调控变异以及将远端调控元件与基因启动子相联系提供有力信息。我们的结果突出了结合个体间和等位基因特异性遗传信号如何改善非编码变异的功能解释。

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