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ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.
Genome Med. 2022 Jan 18;14(1):6. doi: 10.1186/s13073-021-01004-8.
Genome Med. 2022.
PMID: 35039090
Free PMC article.
Accessing clinical-grade genomic classification data through the ClinGen Data Platform.
Dalton KP, Rehm HL, Wright MW, Mandell ME, Krysiak K, Babb L, Riehle K, Nelson T, Wagner AH.
Dalton KP, et al. Among authors: mandell me.
Pac Symp Biocomput. 2023;28:531-535.
Pac Symp Biocomput. 2023.
PMID: 36541006
Free PMC article.
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Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms.
Wright MW, Thaxton CL, Nelson T, DiStefano MT, Savatt JM, Brush MH, Cheung G, Mandell ME, Wulf B, Ward TJ, Goehringer S, O'Neill T, Weller P, Preston CG, Keseler IM, Goldstein JL, Strande NT, McGlaughon J, Azzariti DR, Cordova I, Dziadzio H, Babb L, Riehle K, Milosavljevic A, Martin CL, Rehm HL, Plon SE, Berg JS, Riggs ER, Klein TE.
Wright MW, et al. Among authors: mandell me.
Annu Rev Biomed Data Sci. 2024 Aug;7(1):31-50. doi: 10.1146/annurev-biodatasci-102423-112456. Epub 2024 Jul 24.
Annu Rev Biomed Data Sci. 2024.
PMID: 38663031
Review.
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