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Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering
Authors:Daniyal Daud  Helen Griffin  Konstantinos Douroudis  Stephanie Kleinle  Gail Eglon  Angela Pyle  Patrick F Chinnery  Rita Horvath
Institution:1. Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
2. Department of Medicine, James Cook University Hospital, Middlesbrough, TS4 3BW, UK
3. Medical Genetic Center, 80336, Munich, Germany
Abstract:
Keywords:
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