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SeqHBase: a big data toolset for family based sequencing data analysis

BACKGROUND: Whole-genome sequencing (WGS) and whole-exome sequencing (WES) technologies are increasingly used to identify disease-contributing mutations in human genomic studies. It can be a significant challenge to process such data, especially when a large family or cohort is sequenced. Our object...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: He, Min, Person, Thomas N, Hebbring, Scott J, Heinzen, Ethan, Ye, Zhan, Schrodi, Steven J, McPherson, Elizabeth W, Lin, Simon M, Peissig, Peggy L, Brilliant, Murray H, O'Rawe, Jason, Robison, Reid J, Lyon, Gholson J, Wang, Kai
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2015
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4382803/
https://ncbi.nlm.nih.gov/pubmed/25587064
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2014-102907
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