Fully Phased Sequence of a Diploid Human Genome Determined de Novo from the DNA of a Single Individual.

ABSTRACT: In recent years, improved sequencing technology and computational tools have made de novo genome assembly more accessible. Many approaches, however, generate either an unphased or only partially resolved representation of a diploid genome, in which polymorphisms are detected but not assigned to one or the other of the homologous chromosomes. Yet chromosomal phase information is invaluable for the understanding of phenotypic trait inheritance in the cases of compound heterozygosity, allele-specific expression or cis-acting variants. Here we use a combination of tools and sequencing technologies to generate a de novo diploid assembly of the human primary cell line WI-38. First, data from PacBio single molecule sequencing and Bionano Genomics optical mapping were combined

SUBMITTER: Soifer L 

PROVIDER: S-EPMC7466960 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature