Article
Anchored pseudo-de novo assembly of human genomes identifies extensive sequence variation from unmapped sequence reads.
Human genetics - 1 Jul 2016
Faber-Hammond Joshua J, Brown Kim H
Abstract excerpt
The human genome reference (HGR) completion marked the genomics era beginning, yet despite its utility universal application is limited by the small number of individuals used in its development. This is highlighted by the presence of high-quality sequence reads failing to map within the HGR. Sequences failing to map generally represent 2-5 % of total reads, which may harbor regions that would enhance our...
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