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Critical assessment of missense variant effect predictors on disease-relevant variant data.
Rastogi R, Chung R, Li S, Li C, Lee K, Woo J, Kim DW, Keum C, Babbi G, Martelli PL, Savojardo C, Casadio R, Chennen K, Weber T, Poch O, Ancien F, Cia G, Pucci F, Raimondi D, Vranken W, Rooman M, Marquet C, Olenyi T, Rost B, Andreoletti G, Kamandula A, Peng Y, Bakolitsa C, Mort M, Cooper DN, Bergquist T, Pejaver V, Liu X, Radivojac P, Brenner SE, Ioannidis NM. Rastogi R, et al. Among authors: chung r. bioRxiv [Preprint]. 2024 Jun 8:2024.06.06.597828. doi: 10.1101/2024.06.06.597828. bioRxiv. 2024. PMID: 38895200 Free PMC article. Preprint.
Variants in tubule epithelial regulatory elements mediate most heritable differences in human kidney function.
Loeb GB, Kathail P, Shuai R, Chung R, Grona RJ, Peddada S, Sevim V, Federman S, Mader K, Chu A, Davitte J, Du J, Gupta AR, Ye CJ, Shafer S, Przybyla L, Rapiteanu R, Ioannidis N, Reiter JF. Loeb GB, et al. Among authors: chung r. bioRxiv [Preprint]. 2024 Jun 22:2024.06.18.599625. doi: 10.1101/2024.06.18.599625. bioRxiv. 2024. Update in: Nat Genet. 2024 Oct;56(10):2078-2092. doi: 10.1038/s41588-024-01904-6 PMID: 38948875 Free PMC article. Updated. Preprint.
Variants in tubule epithelial regulatory elements mediate most heritable differences in human kidney function.
Loeb GB, Kathail P, Shuai RW, Chung R, Grona RJ, Peddada S, Sevim V, Federman S, Mader K, Chu AY, Davitte J, Du J, Gupta AR, Ye CJ, Shafer S, Przybyla L, Rapiteanu R, Ioannidis NM, Reiter JF. Loeb GB, et al. Among authors: chung r. Nat Genet. 2024 Oct;56(10):2078-2092. doi: 10.1038/s41588-024-01904-6. Epub 2024 Sep 10. Nat Genet. 2024. PMID: 39256582
Investigating misclassification of type 1 diabetes in a population-based cohort of British Pakistanis and Bangladeshis using polygenic risk scores.
Liu T, Sankareswaran A, Paterson G; Genes & Health Research Team; Fraser DP, Hodgson S, Huang QQ, Heng TH, Ladwa M, Thomas N, van Heel DA, Weedon MN, Yajnik CS, Oram RA, Chandak GR, Martin HC, Finer S. Liu T, et al. Sci Rep. 2025 Jan 13;15(1):1168. doi: 10.1038/s41598-024-80348-8. Sci Rep. 2025. PMID: 39805939 Free PMC article.
2,034 results