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
收藏
页码：590 / 592
页数：2
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