Genome-wide profiling of heritable and de novo STR variations

Short tandem repeats (STRs) are highly variable elements that play a pivotal role in multiple genetic diseases, population genetics applications, and forensic casework. However, STRs have proven problematic to genotype from high-throughput sequencing data. Here, we describe HipSTR, a novel haplotype...

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Autores principales: Willems, Thomas, Zielinski, Dina, Yuan, Jie, Gordon, Assaf, Gymrek, Melissa, Erlich, Yaniv
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5482724/
https://www.ncbi.nlm.nih.gov/pubmed/28436466
http://dx.doi.org/10.1038/nmeth.4267
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author Willems, Thomas
Zielinski, Dina
Yuan, Jie
Gordon, Assaf
Gymrek, Melissa
Erlich, Yaniv
author_facet Willems, Thomas
Zielinski, Dina
Yuan, Jie
Gordon, Assaf
Gymrek, Melissa
Erlich, Yaniv
author_sort Willems, Thomas
collection PubMed
description Short tandem repeats (STRs) are highly variable elements that play a pivotal role in multiple genetic diseases, population genetics applications, and forensic casework. However, STRs have proven problematic to genotype 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 report a genome-wide analysis and validation of de novo STR mutations.
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spelling pubmed-54827242017-10-24 Genome-wide profiling of heritable and de novo STR variations Willems, Thomas Zielinski, Dina Yuan, Jie Gordon, Assaf Gymrek, Melissa Erlich, Yaniv Nat Methods Article Short tandem repeats (STRs) are highly variable elements that play a pivotal role in multiple genetic diseases, population genetics applications, and forensic casework. However, STRs have proven problematic to genotype 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 report a genome-wide analysis and validation of de novo STR mutations. 2017-04-24 2017-06 /pmc/articles/PMC5482724/ /pubmed/28436466 http://dx.doi.org/10.1038/nmeth.4267 Text en Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use: http://www.nature.com/authors/editorial_policies/license.html#terms
spellingShingle Article
Willems, Thomas
Zielinski, Dina
Yuan, Jie
Gordon, Assaf
Gymrek, Melissa
Erlich, Yaniv
Genome-wide profiling of heritable and de novo STR variations
title Genome-wide profiling of heritable and de novo STR variations
title_full Genome-wide profiling of heritable and de novo STR variations
title_fullStr Genome-wide profiling of heritable and de novo STR variations
title_full_unstemmed Genome-wide profiling of heritable and de novo STR variations
title_short Genome-wide profiling of heritable and de novo STR variations
title_sort genome-wide profiling of heritable and de novo str variations
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5482724/
https://www.ncbi.nlm.nih.gov/pubmed/28436466
http://dx.doi.org/10.1038/nmeth.4267
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