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Biomedical informatics and machine learning for clinical genomics

While tens of thousands of pathogenic variants are used to inform the many clinical applications of genomics, there remains limited information on quantitative disease risk for the majority of variants used in clinical practice. At the same time, rising demand for genetic counselling has prompted a...

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Detalles Bibliográficos
Publicado en:Hum Mol Genet
Main Authors: Diao, James A, Kohane, Isaac S, Manrai, Arjun K
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2018
Assuntos:
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5946905/
https://ncbi.nlm.nih.gov/pubmed/29566172
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy088
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