Ontology highlight
ABSTRACT:
SUBMITTER: Audano PA
PROVIDER: S-EPMC6438697 | biostudies-literature | 2019 Jan
REPOSITORIES: biostudies-literature
Cell 20190117 3
In order to provide a comprehensive resource for human structural variants (SVs), we generated long-read sequence data and analyzed SVs for fifteen human genomes. We sequence resolved 99,604 insertions, deletions, and inversions including 2,238 (1.6 Mbp) that are shared among all discovery genomes with an additional 13,053 (6.9 Mbp) present in the majority, indicating minor alleles or errors in the reference. Genotyping in 440 additional genomes confirms the most common SVs in unique euchromatin ...[more]