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VCAT: an integrated variant function annotation tools.
Huang B, Fan C, Chen K, Rao J, Ou P, Tian C, Yang Y, Cooper DN, Zhao H. Huang B, et al. Among authors: cooper dn. Hum Genet. 2024 Nov;143(11):1311-1322. doi: 10.1007/s00439-024-02699-6. Epub 2024 Aug 27. Hum Genet. 2024. PMID: 39192052
Critical assessment of missense variant effect predictors on disease-relevant variant data.
Rastogi R, Chung R, Li S, Li C, Lee K, Woo J, Kim DW, Keum C, Babbi G, Martelli PL, Savojardo C, Casadio R, Chennen K, Weber T, Poch O, Ancien F, Cia G, Pucci F, Raimondi D, Vranken W, Rooman M, Marquet C, Olenyi T, Rost B, Andreoletti G, Kamandula A, Peng Y, Bakolitsa C, Mort M, Cooper DN, Bergquist T, Pejaver V, Liu X, Radivojac P, Brenner SE, Ioannidis NM. Rastogi R, et al. Among authors: cooper dn. Hum Genet. 2025 Mar;144(2-3):281-293. doi: 10.1007/s00439-025-02732-2. Epub 2025 Mar 21. Hum Genet. 2025. PMID: 40113603 Free PMC article.
613 results