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publications [2025/05/21 02:26] – cassa | publications [2025/08/19 22:23] (current) – cassa | ||
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- | - Extracting and calibrating population evidence of variant pathogenicity using biobank data. Bhat V, Yu T, Brown L, Pejaver V, Lebo M, Harrison S, **Cassa CA**. Accepted to American Journal of Human Genetics; doi: https:// | + | - Extracting and calibrating population evidence of variant pathogenicity using biobank data. Bhat V, Yu T, Brown L, Pejaver V, Lebo M, Harrison S, **Cassa CA**. American Journal of Human Genetics, Vol 112, Issue 8, 1805-1817; doi: 10.1016/j.ajhg.2025.06.012 |
- | - FUSE: Improving the estimation and imputation of variant impacts in functional screening. Yu, T, Fife JD, Adzhubey I, Sherwood R*, **Cassa CA***. | + | |
- Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification. Nat Genet 56, 925–937 (2024) https:// | - Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification. Nat Genet 56, 925–937 (2024) https:// | ||
- Estimating clinical risk in gene regions from population sequencing cohort data. Fife JD, **Cassa CA**. Am J Hum Genet, June 2023. doi: https:// | - Estimating clinical risk in gene regions from population sequencing cohort data. Fife JD, **Cassa CA**. Am J Hum Genet, June 2023. doi: https:// |