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

Genome Res. 2022 Nov-Dec;32(11-12):2107-2118. doi: 10.1101/gr.276871.122. Epub 2022 Nov 15.

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.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Diploidy
  • Genome, Human*
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Repetitive Sequences, Nucleic Acid
  • Sequence Analysis, DNA