Differences between the genomes of lymphoblastoid cell lines and blood-derived samples.

ABSTRACT: Lymphoblastoid cell lines (LCLs) represent a convenient research tool for expanding the amount of biologic material available from an individual. LCLs are commonly used as reference materials, most notably from the Genome in a Bottle Consortium. However, the question remains how faithfully LCL-derived genome assemblies represent the germline genome of the donor individual as compared to the genome assemblies derived from peripheral blood mononuclear cells. We present an in-depth comparison of a large collection of LCL- and peripheral blood mononuclear cell-derived genomes in terms of distributions of coverage and copy number alterations. We found significant differences in the depth of coverage and copy number calls, which may be driven by differential replication timing. Importantly, thes

SUBMITTER: Joesch-Cohen LM 

PROVIDER: S-EPMC5520659 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature