Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data
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DOI: 10.1038/gim.2017.153
Abstract: PurposeThe objective of this study was to assess the ability of our laboratory’s exome-sequencing test to detect known and novel sequence variants and identify the critical factors influencing the interpretation of a clinical exome test.MethodsWe… read more here.
Keywords: interpretation; validation; novel findings; exome test ... See more keywords