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A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis

10 Sept 2020

Abstract excerpt

Abstract Exome sequencing (ES) has become one of the important diagnostic tools in clinical genetics with a reported diagnostic rate of 25–58%. Many studies have illustrated the diagnostic and immediate clinical impact of ES. However, up to 75% of individuals remain undiagnosed and there is scarce evidence supporting clinical utility beyond a follow-up period of >1 year. This is a 3-year follow-up analysis to our...

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PMID: 32963807
DOI: 10.1038/s41525-020-00144-x

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