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Databases of genomic variation and phenotypes: existing resources and future needs

Massively parallel sequencing (MPS) has become an important tool for identifying medically significant variants in both research and the clinic. Accurate variation and genotype–phenotype databases are critical in our ability to make sense of the vast amount of information that MPS generates. The pur...

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Detalhes bibliográficos
Main Authors: Johnston, Jennifer J., Biesecker, Leslie G.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3782073/
https://ncbi.nlm.nih.gov/pubmed/23962721
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt384
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