Genome-wide profiling of heritable and de novo STR variations

被引：0

作者：

Willems T. ^{[1
,2
]}

Zielinski D. ^{[1
]}

Yuan J. ^{[1
,3
]}

Gordon A. ^{[1
]}

Gymrek M. ^{[4
,5
]}

Erlich Y. ^{[1
,3
,6
]}

机构：

[1] New York Genome Center, New York, NY

[2] Computational and Systems Biology Program, MIT, Cambridge, MA

[3] Department of Computer Science, Fu Foundation School of Engineering, Columbia University, New York, NY

[4] Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA

[5] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA

[6] Center for Computational Biology and Bioinformatics, Columbia University, New York, NY

来源：

Nature Methods | 2017年 / 14卷 / 6期

关键词：

D O I：

10.1038/nmeth.4267

中图分类号：

学科分类号：

摘要：

Short tandem repeats (STRs) are highly variable elements that play a pivotal role in multiple genetic diseases, population genetics applications, and forensic casework. However, it has proven problematic to genotype STRs from high-throughput sequencing data. Here, we describe HipSTR, a novel haplotype-based method for robustly genotyping and phasing STRs from Illumina sequencing data, and we report a genome-wide analysis and validation of de novo STR mutations. HipSTR is freely available at https://hipstr-tool.github.io/HipSTR. © 2017 Nature America, Inc. All rights reserved.

引用

页码：590 / 592

页数：2

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