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Identification of clinically actionable secondary genetic variants from whole‐genome sequencing in a large‐scale Chinese population

1 May 2022

Abstract excerpt

Clinical DNA sequencing is increasingly being chosen as a diagnostic test for Mendelian disorders in genomic medicine. Besides the primary findings, clinically actionable secondary genetic variants could be detected in the DNA sequencing. The genetic variants from genes proposed by American College of Medical Genetics and Genomics (ACMG) should be reported to clinician as secondary findings if the annotation...

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PMID: 35538921
DOI: 10.1002/ctm2.866

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