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publications [2026/03/02 23:55] – cassapublications [2026/04/19 18:38] (current) – cassa
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-===== Selected Recent Publications =====+===== Selected Recent Publications and Preprints =====
  
 +  - LDLR variant classification through activity-normalized prime editing screening. Zhou PJ, Velimirovic M, Yu T, Gligorovski V, Mathis N, Zhao J, Phan QV, Vogd F, Ryu J, Pan Q, Tyagi A, Ascher DB, Schwank G, Pinello L, **Cassa CA***, Sherwood RI*. bioRxiv 2025.12.16.694467; doi: https://doi.org/10.64898/2025.12.16.694467 
   - Language models reveal evidence gaps in variants of uncertain significance. Li W, Bhat V, Yu T, Lebo M, Zitnik M, **Cassa CA**. medRxiv 2026.02.28.26347206; doi: https://doi.org/10.64898/2026.02.28.26347206   - Language models reveal evidence gaps in variants of uncertain significance. Li W, Bhat V, Yu T, Lebo M, Zitnik M, **Cassa CA**. medRxiv 2026.02.28.26347206; doi: https://doi.org/10.64898/2026.02.28.26347206
-  - 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+  - 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**. Accepted April 2026, //Genome Medicine//; doi: https://doi.org/10.1101/2024.12.31.24319792
   - 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   - 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***. Cell Genomics, Vol 4, Issue 10, 100667 doi: https://doi.org/10.1016/j.xgen.2024.100667    - FUSE: Improving the estimation and imputation of variant impacts in functional screening. Yu, T, Fife JD, Adzhubey I, Sherwood R*, **Cassa CA***. Cell Genomics, Vol 4, Issue 10, 100667 doi: https://doi.org/10.1016/j.xgen.2024.100667