IBBR Publications

Found 5 results
Filters: Author is Repo, Susanna  [Clear All Filters]
2019
Kasak L, Bakolitsa C, Hu Z, Yu C, Rine J, Dimster-Denk DF, Pandey G, De Baets G, Bromberg Y, Cao C, et al. Assessing Computational Predictions of the Phenotypic Effect of Cystathionine-beta-Synthase Variants. Hum Mutat. 2019 .
2017
Cai B, Li B, Kiga N, Thusberg J, Bergquist T, Chen Y-C, Niknafs N, Carter H, Tokheim C, Beleva-Guthrie V, et al. Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges. Hum Mutat. 2017 .
Carraro M, Minervini G, Giollo M, Bromberg Y, Capriotti E, Casadio R, Dunbrack R, Elefanti L, Fariselli P, Ferrari C, et al. Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI. Hum Mutat. 2017 .
Hoskins RA, Repo S, Barsky D, Andreoletti G, Moult J, Brenner SE. Reports from CAGI: The Critical Assessment of Genome Interpretation. Hum Mutat. 2017 ;38(9):1039-1041.
Daneshjou R, Wang Y, Bromberg Y, Bovo S, Martelli PL, Babbi G, Di Lena P, Casadio R, Edwards M, Gifford D, et al. Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges. Hum Mutat. 2017 .