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hg19K: addressing a significant lacuna in hg19‐based variant calling

BACKGROUND: The hg19 assembly of the human genome is the most heavily annotated and most commonly used reference to make variant calls for individual genomes. Based on the phase 3 report of the 1000 genomes project (1000G), it is now well known that many positions in the hg19 genome represent minor...

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Detalles Bibliográficos
Autores principales: Karthikeyan, Savita, Bawa, Pushpinder S., Srinivasan, Subhashini
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241214/
https://www.ncbi.nlm.nih.gov/pubmed/28116326
http://dx.doi.org/10.1002/mgg3.251