Ontology highlight
ABSTRACT:
SUBMITTER: Garg S
PROVIDER: S-EPMC6022571 | biostudies-other | 2018 Jul
REPOSITORIES: biostudies-other
Garg Shilpa S Rautiainen Mikko M Novak Adam M AM Garrison Erik E Durbin Richard R Marschall Tobias T
Bioinformatics (Oxford, England) 20180701 13
<h4>Motivation</h4>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-effici ...[more]