Pangenomic genotyping with the marker array

Author:

Mun Taher,Vaddadi Naga Sai Kavya,Langmead Ben

Abstract

AbstractWe present a new method and software tool called that applies a pangenome index to the problem of inferring genotypes from short-read sequencing data. The method uses a novel indexing structure called the marker array. Using the marker array, we can genotype variants with respect from large panels like the 1000 Genomes Project while reducing the reference bias that results when aligning to a single linear reference. can infer accurate genotypes in less time and memory compared to existing graph-based methods. The method is implemented in the open source software tool available at https://github.com/alshai/rowbowt.

Funder

National Human Genome Research Institute

National Institute of General Medical Sciences

Directorate for Biological Sciences

Publisher

Springer Science and Business Media LLC

Subject

Applied Mathematics,Computational Theory and Mathematics,Molecular Biology,Structural Biology

Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Pangenomics: A new era in the field of neurodegenerative diseases;Ageing Research Reviews;2024-02

2. Minimizing Reference Bias: The Impute-First Approach for Personalized Genome Analysis;Proceedings of the 14th ACM International Conference on Bioinformatics, Computational Biology, and Health Informatics;2023-09-03

3. Human Pangenomics: Promises and Challenges of a Distributed Genomic Reference;Life;2023-06-09

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