breakpointR: an R/Bioconductor package to localize strand state changes in Strand-seq data

Author:

Porubsky David12,Sanders Ashley D34,Taudt Aaron15ORCID,Colomé-Tatché Maria15,Lansdorp Peter M136,Guryev Victor1

Affiliation:

1. European Research Institute for the Biology of Ageing, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands

2. Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA

3. Terry Fox Laboratory, BC Cancer Agency, Vancouver, BC, Canada

4. European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany

5. Institute of Computational Biology, Helmholtz Zentrum München, Neuherberg, Germany

6. Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada

Abstract

Abstract Motivation Strand-seq is a specialized single-cell DNA sequencing technique centered around the directionality of single-stranded DNA. Computational tools for Strand-seq analyses must capture the strand-specific information embedded in these data. Results Here we introduce breakpointR, an R/Bioconductor package specifically tailored to process and interpret single-cell strand-specific sequencing data obtained from Strand-seq. We developed breakpointR to detect local changes in strand directionality of aligned Strand-seq data, to enable fine-mapping of sister chromatid exchanges, germline inversion and to support global haplotype assembly. Given the broad spectrum of Strand-seq applications we expect breakpointR to be an important addition to currently available tools and extend the accessibility of this novel sequencing technique. Availability and implementation R/Bioconductor package https://bioconductor.org/packages/breakpointR. Supplementary information Supplementary data are available at Bioinformatics online.

Funder

European Research Council

Publisher

Oxford University Press (OUP)

Subject

Computational Mathematics,Computational Theory and Mathematics,Computer Science Applications,Molecular Biology,Biochemistry,Statistics and Probability

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3