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Pangenomic Genotyping with the Marker Array.


ABSTRACT: We present a new method and software tool called rowbowt 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 avoiding the reference bias that results when aligning to a single linear reference. rowbowt can infer accurate genotypes in less time and memory compared to existing graph-based methods.

SUBMITTER: Mun T 

PROVIDER: S-EPMC9674407 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature

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Pangenomic Genotyping with the Marker Array.

Mun Taher T   Vaddadi Naga Sai Kavya NSK   Langmead Ben B  

Algorithms in bioinformatics : ... International Workshop, WABI ..., proceedings. WABI (Workshop) 20220901


We present a new method and software tool called rowbowt 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 avoiding the reference bias that results when aligning to a single linear reference. rowbowt can infer accurate genotypes in less time and memory compared to  ...[more]

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