Accurate haplotype-resolved assembly reveals the origin of structural variants for human trios.

ABSTRACT:

Motivation

Achieving a near complete understanding of how the genome of an individual affects the phenotypes of that individual requires deciphering the order of variations along homologous chromosomes in species with diploid genomes. However, true diploid assembly of long-range haplotypes remains challenging.

Results

To address this, we have developed Haplotype-resolved Assembly for Synthetic long reads using a Trio-binning strategy, or HAST, which uses parental information to classify reads into maternal or paternal. Once sorted, these reads are used to independently de novo assemble the parent-specific haplotypes. We applied HAST to cobarcoded second-generation sequencing data from an Asian individual, resulting in a haplotype assembly covering 94.7% of the reference geno

SUBMITTER: Xu M 

PROVIDER: S-EPMC8613828 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature