2019
Carraro M, Monzon AMiguel, Chiricosta L, Reggiani F, Aspromonte MCristina, Bellini M, Pagel K, Jiang Y, Radivojac P, Kundu K, et al. Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge. Hum Mutat. 2019 .
Monzon AMiguel, Carraro M, Chiricosta L, Reggiani F, Han J, Ozturk K, Wang Y, Miller M, Bromberg Y, Capriotti E, et al. Performance of computational methods for the evaluation of Pericentriolar Material 1 missense variants in CAGI-5. 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 .
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 .
