Genetic Diagnosis through Whole-Exome Sequencing

Research output: Contribution to journalLetterAcademicpeer-review

4 Citations (Scopus)


To the Editor: Yang et al. (Oct. 17 issue)(1) report the application of whole-exome sequencing in 250 patients with a potentially genetic disease, which resulted in a molecular diagnosis in 25% of them. A total of 30 patients had medically actionable incidental findings in a total of 16 genes; 18 of these patients had genotypes that the American College of Medical Genetics and Genomics has recommended be reported to the ordering physician.(2) As noted in the editorial by Jacob,(3) reporting these incidental findings is a gray area. We advocate a role for a team of specialized professionals to interpret such ...

Original languageEnglish
Pages (from-to)1067-1067
Number of pages1
JournalNew England Journal of Medicine
Issue number11
Publication statusPublished - 13-Mar-2014




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