Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP.
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DOI: 10.1093/hmg/ddac073
Abstract: BACKGROUND In order to report clinically actionable incidental findings in genetic testing, the American College of Medical Genetics and Genomics (ACMG) recommended the evaluation of variants in 59 genes associated with highly penetrant mutations. However,… read more here.
Keywords: qatar genome; variants genes; novel variants; incidental findings ... See more keywords