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[cited 12 Mar 2014]. Available: <ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"http:\/\/exac.broadinstitute.org\" xlink:type=\"simple\">http:\/\/exac.broadinstitute.org<\/ext-link>"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"e1005496","DOI":"10.1371\/journal.pgen.1005496","article-title":"Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data","volume":"11","author":"FE Dewey","year":"2015","journal-title":"PLOS Genet. 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