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A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data.

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author: Susan White  Simon P Sadedin  Zornitza Stark  Clara Gaff  Tiong Y Tan  Harriet Dashnow  Ivan Macciocca  Alicia Oshlack  Melbourne Genomics Health Alliance  Alison Yeung 

Publication date August 23, 2017
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