Evaluating data requirements for high-quality haplotype-resolved genomes for creating robust pangenome references.

ABSTRACT:

Background

Long-read technologies from Pacific Biosciences (PacBio) and Oxford Nanopore Technologies (ONT) have transformed genomics research by providing diverse data types like HiFi, Duplex, and ultra-long ONT. Despite recent strides in achieving haplotype-phased gapless genome assemblies using long-read technologies, concerns persist regarding the representation of genetic diversity, prompting the development of pangenome references. However, pangenome studies face challenges related to data types, volumes, and cost considerations for each assembled genome, while striving to maintain sensitivity. The absence of comprehensive guidance on optimal data selection exacerbates these challenges.

Results

Our study evaluates recommended data types and volumes required to establish

SUBMITTER: Sarashetti P 

PROVIDER: S-EPMC11658127 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature