M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/ng.3703.pdf
Reference40 articles.
1. Yang, Y. et al. Clinical whole-exome sequencing for the diagnosis of Mendelian disorders. N. Engl. J. Med. 369, 1502–1511 (2013).
2. Iglesias, A. et al. The usefulness of whole-exome sequencing in routine clinical practice. Genet. Med. 16, 922–931 (2014).
3. Lee, H. et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. J. Am. Med. Assoc. 312, 1880–1887 (2014).
4. Brownstein, C.A. et al. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 15, R53 (2014).
5. Richards, S. et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405–424 (2015).
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