Interpreting sequence variants in a clinical context

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Comment

Stephen Cederbaum. Genet Med. 2015 Dec.

Free article

. 2015 Dec;17(12):1012.

doi: 10.1038/gim.2015.150. Epub 2015 Nov 5.

No abstract available

Comment in

Response to Cederbaum.
Interpretation of Sequence Variants Workgroup. Interpretation of Sequence Variants Workgroup. Genet Med. 2015 Dec;17(12):1013-4. doi: 10.1038/gim.2015.151. Epub 2015 Nov 12. Genet Med. 2015. PMID: 26562226 No abstract available.

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.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Richards S, et al. Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5. Genet Med. 2015. PMID: 25741868 Free PMC article.