Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification J Ryu, S Barkal, T Yu, M Jankowiak, Y Zhou, M Francoeur, QV Phan, Z Li, ... Nature Genetics, 1-13, 2024 | 9 | 2024 |
Informing variant assessment using structured evidence from prior classifications (PS1, PM5, and PVS1 sequence variant interpretation criteria) V Bhat, IA Adzhubei, JD Fife, M Lebo, CA Cassa Genetics in Medicine 25 (1), 16-26, 2023 | 4 | 2023 |
FUSE: Improving the estimation and imputation of variant impacts in functional screening T Yu, JD Fife, V Bhat, I Adzhubey, R Sherwood, CA Cassa Cell Genomics 4 (10), 2024 | 1 | 2024 |
Extracting and calibrating population evidence of variant pathogenicity using biobank data V Bhat, T Yu, L Brown, V Pejaver, M Lebo, S Harrison, CA Cassa medRxiv, 2024.08. 14.24311911, 2024 | | 2024 |
P428: Evaluating variants in a biobank population using structured evidence from prior classifications (PS1, PM5, and PVS1 criteria) V Bhat, C Cassa Genetics in Medicine Open 1 (1), 2023 | | 2023 |