Article
De novo human genome assemblies reveal spectrum of alternative haplotypes in diverse populations.
Nature communications - 2 Aug 2018
Wong Karen H Y, Levy-Sakin Michal, Kwok Pui-Yan
Abstract excerpt
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...
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