1 in 38 individuals at risk of a dominant medically actionable disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/s41431-018-0284-2.pdf
Reference23 articles.
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2. Kalia SS, Adelman K, Bale SJ, et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SFv2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017;19:249–55.
3. Vears DF, Senecal K, Clarke AJ, et al. Points to consider for laboratories reporting results from diagnostic genomic sequencing. Eur J Hum Genet. 2018;26:36–43.
4. Wouters RHP, Bijlsma RM, Frederix GWJ, et al. Is it our duty to hunt for pathogenic mutations? Trends Mol Med. 2018;24:3–6.
5. Amendola LM, Dorschner MO, Robertson PD, et al. Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015;25:305–15.
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