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 4 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. Cliffy: robust 16S rRNA classification based on a compressed LCA index;2024-05-30

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

3. 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

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

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