A framework for variation discovery and genotyping using next-generation DNA sequencing data

Recent advances in sequencing technology make it possible to comprehensively catalogue genetic variation in population samples, creating a foundation for understanding human disease, ancestry and evolution. The amounts of raw data produced are prodigious and many computational steps are required to...

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Bibliografiske detaljer
Main Authors: DePristo, M.A., Banks, E., Poplin, R.E., Garimella, K.V., Maguire, J.R., Hartl, C., Philippakis, A.A., del Angel, G., Rivas, M.A, Hanna, M., McKenna, A., Fennell, T.J., Kernytsky, A.M., Sivachenko, A.Y., Cibulskis, K., Gabriel, S.B., Altshuler, D., Daly, M.J.
Format: Artigo
Sprog:Inglês
Udgivet: 2011
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3083463/
https://ncbi.nlm.nih.gov/pubmed/21478889
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.806
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