Ontology highlight
ABSTRACT:
SUBMITTER: McDonald TL
PROVIDER: S-EPMC8196195 | biostudies-literature | 2021 Jun
REPOSITORIES: biostudies-literature
McDonald Torrin L TL Zhou Weichen W Castro Christopher P CP Mumm Camille C Switzenberg Jessica A JA Mills Ryan E RE Boyle Alan P AP
Nature communications 20210611 1
Mobile element insertions (MEIs) are repetitive genomic sequences that contribute to genetic variation and can lead to genetic disorders. Targeted and whole-genome approaches using short-read sequencing have been developed to identify reference and non-reference MEIs; however, the read length hampers detection of these elements in complex genomic regions. Here, we pair Cas9-targeted nanopore sequencing with computational methodologies to capture active MEIs in human genomes. We demonstrate paral ...[more]