A graph-based approach to diploid genome assembly.

ABSTRACT:

Motivation

Constructing high-quality haplotype-resolved de novo assemblies of diploid genomes is important for revealing the full extent of structural variation and its role in health and disease. Current assembly approaches often collapse the two sequences into one haploid consensus sequence and, therefore, fail to capture the diploid nature of the organism under study. Thus, building an assembler capable of producing accurate and complete diploid assemblies, while being resource-efficient with respect to sequencing costs, is a key challenge to be addressed by the bioinformatics community.

Results

We present a novel graph-based approach to diploid assembly, which combines accurate Illumina data and long-read Pacific Biosciences (PacBio) data. We demonstrate the effectivenes

SUBMITTER: Garg S 

PROVIDER: S-EPMC6022571 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature