Details

Autor(en) / Beteiligte

• Wong, Karen H Y
• Levy-Sakin, Michal
• Kwok, Pui-Yan

Titel

De novo human genome assemblies reveal spectrum of alternative haplotypes in diverse populations

Ist Teil von

• Nature communications, 2018-08, Vol.9 (1), p.3040-9, Article 3040

Ort / Verlag

England: Nature Publishing Group

Erscheinungsjahr

2018

Quelle

MEDLINE

Beschreibungen/Notizen

• 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 to 2.1 Mb of so far undescribed genomic content. Among these, 64% are considered ancestral to humans since they are found in non-human primate genomes. Furthermore, 37% of the NUIs can be found in the human transcriptome and 14% likely arose from Alu-recombination-mediated deletion. Our results underline the need of a set of human reference genomes that includes a comprehensive list of alternative haplotypes to depict the complete spectrum of genetic diversity across populations.