IBBR Publications

Found 10 results
Filters: Author is Yin, Yizhou  [Clear All Filters]
Chandonia J-M, Adhikari A, Carraro M, Chhibber A, Cutting GR, Fu Y, Gasparini A, Jones DT, Kramer A, Kundu K, et al. 3Lessons from the CAGI-4 Hopkins clinical panel challenge. Hum Mutat. 2017 .
Pal LR, Kundu K, Yin Y, Moult J. CAGI4 Crohn's exome challenge: Marker SNP versus exome variant models for assigning risk of Crohn disease. Hum Mutat. 2017 .
Pal LR, Kundu K, Yin Y, Moult J. CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants. Hum Mutat. 2017 .
Kundu K, Pal LR, Yin Y, Moult J. Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge. Hum Mutat. 2017 .
Yin Y, Kundu K, Pal LR, Moult J. Ensemble variant interpretation methods to predict enzyme activity and assign pathogenicity in the CAGI4 NAGLU (Human N-acetyl-glucosaminidase) and UBE2I (Human SUMO-ligase) challenges. Hum Mutat. 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 .