A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics

BACKGROUND: Genome-wide data are increasingly important in the clinical evaluation of human disease. However, the large number of variants observed in individual patients challenges the efficiency and accuracy of diagnostic review. Recent work has shown that systematic integration of clinical phenot...

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Bibliografiska uppgifter
I publikationen:Genome Med
Huvudupphovsmän: James, Regis A., Campbell, Ian M., Chen, Edward S., Boone, Philip M., Rao, Mitchell A., Bainbridge, Matthew N., Lupski, James R., Yang, Yaping, Eng, Christine M., Posey, Jennifer E., Shaw, Chad A.
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2016
Ämnen:
Research
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4736244/
https://ncbi.nlm.nih.gov/pubmed/26838676
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-016-0261-8
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