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Fast and accurate mapping of long reads to complete genome assemblies with VerityMap.

ABSTRACT: Recent advancements in long-read sequencing have enabled the telomere-to-telomere (complete) assembly of a human genome and are now contributing to the haplotype-resolved complete assemblies of multiple human genomes. Because the accuracy of read mapping tools deteriorates in highly repetitive regions, there is a need to develop accurate, error-exposing (detecting potential assembly errors), and diploid-aware (distinguishing different haplotypes) tools for read mapping in complete assemblies. We describe the first accurate, error-exposing, and partially diploid-aware VerityMap tool for long-read mapping to complete assemblies.

SUBMITTER: Bzikadze AV

PROVIDER: S-EPMC9808623 | biostudies-literature | 2022 Nov-Dec

REPOSITORIES: biostudies-literature

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Fast and accurate mapping of long reads to complete genome assemblies with VerityMap.

Bzikadze Andrey V AV Mikheenko Alla A Pevzner Pavel A PA

Genome research 20221115 11-12

Recent advancements in long-read sequencing have enabled the telomere-to-telomere (complete) assembly of a human genome and are now contributing to the haplotype-resolved complete assemblies of multiple human genomes. Because the accuracy of read mapping tools deteriorates in highly repetitive regions, there is a need to develop accurate, error-exposing (detecting potential assembly errors), and diploid-aware (distinguishing different haplotypes) tools for read mappin ...[more]

PMID: 36379716

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