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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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Dettagli Bibliografici
Pubblicato in:Hum Mol Genet
Autori principali: Diao, James A, Kohane, Isaac S, Manrai, Arjun K
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2018
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Accesso online: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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