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publications [2024/09/15 21:57] – cassapublications [2025/06/19 21:24] (current) – cassa
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 ===== Selected Recent Publications ===== ===== Selected Recent Publications =====
  
-  - 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. medRxiv 2024.08.14.24311911; doi: https://doi.org/10.1101/2024.08.14.24311911 +  - From Text to Translation: Using Language Models to Prioritize Variants for Clinical Review. Li W, Li X, Lavallee E, Saparov A, Zitnik M, **Cassa C**. medRxiv 2024.12.31.24319792; doi: https://doi.org/10.1101/2024.12.31.24319792 
-  - FUSE: Improving the estimation and imputation of variant impacts in functional screening. Yu, T, Fife JD, Adzhubey I, Sherwood R*, **Cassa CA***. In Press, Cell Genomics. doi: https://doi.org/10.1101/2023.01.06.23284280+  - 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) American Journal of Human Genetics; doi: https://doi.org/10.1101/2024.08.14.24311911 
 +   - FUSE: Improving the estimation and imputation of variant impacts in functional screening. Yu, T, Fife JD, Adzhubey I, Sherwood R*, **Cassa CA***. Cell Genomics, Volume 4, Issue 10, 100667 doi: https://doi.org/10.1016/j.xgen.2024.100667
   - Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification. Nat Genet 56, 925–937 (2024) https://doi.org/10.1038/s41588-024-01726-6. Ryu J, Barkal S, Yu T, Jankowiak M, Zhou Y, Francoeur M, Phan QV, Li Z, Tognon M, Brown L, Love MI, Bhat V, Lettre G, Ascher DB, **Cassa CA***, Sherwood RI*, Pinello L*.   - Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification. Nat Genet 56, 925–937 (2024) https://doi.org/10.1038/s41588-024-01726-6. Ryu J, Barkal S, Yu T, Jankowiak M, Zhou Y, Francoeur M, Phan QV, Li Z, Tognon M, Brown L, Love MI, Bhat V, Lettre G, Ascher DB, **Cassa CA***, Sherwood RI*, Pinello L*.
   - Estimating clinical risk in gene regions from population sequencing cohort data. Fife JD, **Cassa CA**. Am J Hum Genet, June 2023. doi: https://doi.org/10.1101/2023.01.06.23284281   - Estimating clinical risk in gene regions from population sequencing cohort data. Fife JD, **Cassa CA**. Am J Hum Genet, June 2023. doi: https://doi.org/10.1101/2023.01.06.23284281