Benchmarking long-read genome sequence alignment tools for human genomics applications.

ABSTRACT:

Background

The utility of long-read genome sequencing platforms has been shown in many fields including whole genome assembly, metagenomics, and amplicon sequencing. Less clear is the applicability of long reads to reference-guided human genomics, which is the foundation of genomic medicine. Here, we benchmark available platform-agnostic alignment tools on datasets from nanopore and single-molecule real-time platforms to understand their suitability in producing a genome representation.

Results

For this study, we leveraged publicly-available data from sample NA12878 generated on Oxford Nanopore and sample NA24385 on Pacific Biosciences platforms. We employed state of the art sequence alignment tools including GraphMap2, long-read aligner (LRA), Minimap2, CoNvex Gap-cost alig

SUBMITTER: LoTempio J 

PROVIDER: S-EPMC10734412 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature