Increasing evidence of combinatory variant effects calls for revised classification of low-penetrance alleles
- PMID: 30385887
- PMCID: PMC6752265
- DOI: 10.1038/s41436-018-0347-3
Increasing evidence of combinatory variant effects calls for revised classification of low-penetrance alleles
Conflict of interest statement
The authors declare no conflicts of interest.
Comment in
-
Response to Cody.Genet Med. 2020 Jan;22(1):236-237. doi: 10.1038/s41436-019-0621-z. Epub 2019 Aug 9. Genet Med. 2020. PMID: 31395943 Free PMC article. No abstract available.
-
Re-evaluation of the classification system for the clinical interpretation of genomic copy number variation.Genet Med. 2020 Jan;22(1):234-235. doi: 10.1038/s41436-019-0619-6. Epub 2019 Aug 9. Genet Med. 2020. PMID: 31395944 No abstract available.
References
-
- Richards S, Aziz N, Bale 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. 2015;17:405–424. doi: 10.1038/gim.2015.30. - DOI - PMC - PubMed
MeSH terms
LinkOut - more resources
Full Text Sources
