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Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms.
Annu Rev Biomed Data Sci. 2024 Apr 25. doi: 10.1146/annurev-biodatasci-102423-112456. Online ahead of print.
Annu Rev Biomed Data Sci. 2024.
PMID: 38663031
Review.
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.
Preston CG, Wright MW, Madhavrao R, Harrison SM, Goldstein JL, Luo X, Wand H, Wulf B, Cheung G, Mandell ME, Tong H, Cheng S, Iacocca MA, Pineda AL, Popejoy AB, Dalton K, Zhen J, Dwight SS, Babb L, DiStefano M, O'Daniel JM, Lee K, Riggs ER, Zastrow DB, Mester JL, Ritter DI, Patel RY, Subramanian SL, Milosavljevic A, Berg JS, Rehm HL, Plon SE, Cherry JM, Bustamante CD, Costa HA; Clinical Genome Resource (ClinGen).
Preston CG, et al.
Genome Med. 2022 Jan 18;14(1):6. doi: 10.1186/s13073-021-01004-8.
Genome Med. 2022.
PMID: 35039090
Free PMC article.
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Dynamic Control of X Chromosome Conformation and Repression by a Histone H4K20 Demethylase.
Brejc K, Bian Q, Uzawa S, Wheeler BS, Anderson EC, King DS, Kranzusch PJ, Preston CG, Meyer BJ.
Brejc K, et al. Among authors: preston cg.
Cell. 2017 Sep 21;171(1):85-102.e23. doi: 10.1016/j.cell.2017.07.041. Epub 2017 Aug 31.
Cell. 2017.
PMID: 28867287
Free PMC article.
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