A new era in the interpretation of human genomic variation
- PMID: 28703787
- PMCID: PMC6543848
- DOI: 10.1038/gim.2017.90
A new era in the interpretation of human genomic variation
Comment in
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Peter Bauer, Ellen Karges, Gabriela Oprea and Arndt Rolfs.Genet Med. 2018 Mar;20(3):378-379. doi: 10.1038/gim.2017.179. Epub 2017 Nov 2. Genet Med. 2018. PMID: 29095813 No abstract available.
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Unmet needs in human genomic variant interpretation.Genet Med. 2018 Mar;20(3):376-377. doi: 10.1038/gim.2017.187. Epub 2017 Oct 26. Genet Med. 2018. PMID: 29261185 No abstract available.
Comment on
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Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Genet Med. 2017. PMID: 28492532 Free PMC article.
References
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- 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. Genetics in medicine : official journal of the American College of Medical Genetics. 2015;17(5):405–424. - PMC - PubMed
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