Personalised analytics for rare disease diagnostics

Whole genome and exome sequencing is a standard tool for the diagnosis of patients suffering from rare and other genetic disorders. The interpretation of the tens of thousands of variants returned from such tests remains a major challenge. Here we focus on the problem of prioritising variants with r...

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Udgivet i:Nat Commun
Main Authors: Anderson, Denise, Baynam, Gareth, Blackwell, Jenefer M., Lassmann, Timo
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2019
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6872807/
https://ncbi.nlm.nih.gov/pubmed/31754101
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-019-13345-5
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