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Anchored pseudo-de novo assembly of human genomes identifies extensive sequence variation from unmapped sequence reads

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. Sequen...

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Bibliografiske detaljer
Udgivet i:Hum Genet
Main Authors: Faber-Hammond, Joshua J., Brown, Kim H.
Format: Artigo
Sprog:Inglês
Udgivet: 2016
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4899208/
https://ncbi.nlm.nih.gov/pubmed/27061184
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-016-1667-5
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