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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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Pubblicato in:Hum Genet
Autori principali: Faber-Hammond, Joshua J., Brown, Kim H.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2016
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Accesso online: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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