Ontology highlight
ABSTRACT:
SUBMITTER: Wong KHY
PROVIDER: S-EPMC6072799 | biostudies-literature | 2018 Aug
REPOSITORIES: biostudies-literature
Wong Karen H Y KHY Levy-Sakin Michal M Kwok Pui-Yan PY
Nature communications 20180802 1
The human reference genome is used extensively in modern biological research. However, a single consensus representation is inadequate to provide a universal reference structure because it is a haplotype among many in the human population. Using 10× Genomics (10×G) "Linked-Read" technology, we perform whole genome sequencing (WGS) and de novo assembly on 17 individuals across five populations. We identify 1842 breakpoint-resolved non-reference unique insertions (NUIs) that, in aggregate, add up ...[more]