Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s41431-019-0384-7.pdf
Reference40 articles.
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2. Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, et al. Clinical whole-exome sequencing for the diagnosis of Mendelian disorders. N Engl J Med. 2013;369:1502–11.
3. Rauch A. Exome sequencing in unspecific intellectual disability and rare disorders. Mol Cytogenet. 2014;7(Suppl 1 Proceedings of the International Conference on Human):I26.
4. Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014;312:1870–9.
5. Retterer K, Juusola J, Cho MT, Vitazka P, Millan F, Gibellini F, et al. Clinical application of whole-exome sequencing across clinical indications. Genet Med. 2016;18:696–704.
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