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publications [2023/03/30 09:54] – cassapublications [2023/11/17 14:05] (current) – cassa
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 ===== Selected Recent Publications ===== ===== Selected Recent Publications =====
  
-  - DeMAG predicts the effects of variants in clinically actionable genes by integrating structural and evolutionary epistatic features. Luppino F, Adzhubei I, **Cassa, CA***, Toth-Petroczy A*. Nature Communications (Accepted) 2023 +  - Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification. medRxiv. 2023 Sep 10:2023.09.08.23295253. doi: 10.1101/2023.09.08.23295253. Ryu J, Barkal S, Yu T, Jankowiak M, Zhou Y, Francoeur M, Phan QV, Li Z, Tognon M, Brown L, Love MI, 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**. medRxiv 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 
 +  - DeMAG predicts the effects of variants in clinically actionable genes by integrating structural and evolutionary epistatic features. Luppino, F., Adzhubei, I.A., **Cassa, CA***, Toth-Petroczy A*. Nat Commun 2023 Apr 19;14(1):2230. doi: 10.1038/s41467-023-37661-z. [[https://t.co/mOD0P53Ppn]]
   - Joint estimation and imputation of variant functional effects using high throughput assay data. Yu, T, Fife JD, Adzhubey I, Sherwood R*, **Cassa CA***. medRxiv 2023 doi: https://doi.org/10.1101/2023.01.06.23284280   - Joint estimation and imputation of variant functional effects using high throughput assay data. Yu, T, Fife JD, Adzhubey I, Sherwood R*, **Cassa CA***. medRxiv 2023 doi: https://doi.org/10.1101/2023.01.06.23284280
-  - Systematic elucidation of genetic mechanisms underlying cholesterol uptake. Hamilton MC, Fife JD, Akinci E, Yu T, Khowpinitchai B, Cha M, Barkal S, Thi TT, Yeo G, Ramos Barroso JP, Francoeur MJ, Velimirovic M, Gifford DK, Lettre G, Yu H, **Cassa CA***, Sherwood RI*. Cell Genomics (Accepted) 2023 doi: https://doi.org/10.1101/2023.01.09.500804  +  - Systematic elucidation of genetic mechanisms underlying cholesterol uptake. Hamilton MC, Fife JD, Akinci E, Yu T, Khowpinitchai B, Cha M, Barkal S, Thi TT, Yeo G, Ramos Barroso JP, Francoeur MJ, Velimirovic M, Gifford DK, Lettre G, Yu H*, **Cassa CA***, Sherwood RI*. Cell Genomics, 2023, 100304. [[https://doi.org/10.1016/j.xgen.2023.100304]] 
-  - The missing link between genetic association and regulatory function. Connally N, Nazeen S, Lee D, Shi H, Stamatoyannopoulos J, Chun S, Cotsapas C*, **Cassa CA*, **Sunyaev S*. eLife, Dec. 2022 https://elifesciences.org/articles/74970+  - The missing link between genetic association and regulatory function. Connally N, Nazeen S, Lee D, Shi H, Stamatoyannopoulos J, Chun S, Cotsapas C*, **Cassa CA*, **Sunyaev S*. eLife, Dec. 2022 https://elifesciences.org/articles/74970  https://doi.org/10.7554/eLife.74970
   - Informing Variant Assessment using Structured Evidence from Prior Classifications (PS1, PM5, and PVS1 Sequence Variant Interpretation Criteria) Bhat V, Adzhubei IA, Fife JD, Lebo M, **Cassa CA**. Genetics in Medicine, 2022. doi: https://doi.org/10.1101/2022.05.16.22275073   - Informing Variant Assessment using Structured Evidence from Prior Classifications (PS1, PM5, and PVS1 Sequence Variant Interpretation Criteria) Bhat V, Adzhubei IA, Fife JD, Lebo M, **Cassa CA**. Genetics in Medicine, 2022. doi: https://doi.org/10.1101/2022.05.16.22275073
   - A framework for integrated clinical risk assessment using population sequencing data. Fife JD, Tran T, Bernatchez JR, Shepard KE, Koch C, Patel AP, Fahed AC, Krishnamurthy S, Regeneron Genetics Center, DiscovEHR Collaboration, Wang W, Buchanan AH, Carey DJ, Metpally R, Khera AV, Lebo M, **Cassa CA**. Preprint on medRxiv. doi: https://doi.org/10.1101/2021.08.12.21261563   - A framework for integrated clinical risk assessment using population sequencing data. Fife JD, Tran T, Bernatchez JR, Shepard KE, Koch C, Patel AP, Fahed AC, Krishnamurthy S, Regeneron Genetics Center, DiscovEHR Collaboration, Wang W, Buchanan AH, Carey DJ, Metpally R, Khera AV, Lebo M, **Cassa CA**. Preprint on medRxiv. doi: https://doi.org/10.1101/2021.08.12.21261563