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Family-specific analysis of variant pathogenicity prediction tools.
Zaucha J, Heinzinger M, Tarnovskaya S, Rost B, Frishman D. Zaucha J, et al. NAR Genom Bioinform. 2020 Feb 28;2(2):lqaa014. doi: 10.1093/nargab/lqaa014. eCollection 2020 Jun. NAR Genom Bioinform. 2020. PMID: 33575576 Free PMC article.
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases.
Kasak L, Hunter JM, Udani R, Bakolitsa C, Hu Z, Adhikari AN, Babbi G, Casadio R, Gough J, Guerrero RF, Jiang Y, Joseph T, Katsonis P, Kotte S, Kundu K, Lichtarge O, Martelli PL, Mooney SD, Moult J, Pal LR, Poitras J, Radivojac P, Rao A, Sivadasan N, Sunderam U, Saipradeep VG, Yin Y, Zaucha J, Brenner SE, Meyn MS. Kasak L, et al. Among authors: zaucha j. Hum Mutat. 2019 Sep;40(9):1373-1391. doi: 10.1002/humu.23874. Epub 2019 Sep 3. Hum Mutat. 2019. PMID: 31322791 Free PMC article.
162 results