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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Veröffentlicht in:Genome Med
Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2016
Schlagworte:
Research
Online Zugang: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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