Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases
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DOI: 10.1038/gim.2017.142
Abstract: PurposeWe sought to determine the analytical sensitivity of several extended exome variation analysis approaches in terms of their contribution to diagnostic yield and their clinical feasibility.MethodsWe retrospectively analyzed the results of genetic testing in 1,059… read more here.
Keywords: exome analysis; analysis approaches; analysis; diagnostic yield ... See more keywords