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Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD, Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG, Yu H. Fragoza R, et al. Among authors: cooper dn. Nat Commun. 2019 Sep 12;10(1):4141. doi: 10.1038/s41467-019-11959-3. Nat Commun. 2019. PMID: 31515488 Free PMC article.
Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants.
Sevim Bayrak C, Stein D, Jain A, Chaudhary K, Nadkarni GN, Van Vleck TT, Puel A, Boisson-Dupuis S, Okada S, Stenson PD, Cooper DN, Schlessinger A, Itan Y. Sevim Bayrak C, et al. Among authors: cooper dn. Am J Hum Genet. 2021 Dec 2;108(12):2301-2318. doi: 10.1016/j.ajhg.2021.10.007. Epub 2021 Nov 10. Am J Hum Genet. 2021. PMID: 34762822 Free PMC article.
Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients.
Wu Y, Gettler K, Kars ME, Giri M, Li D, Bayrak CS, Zhang P, Jain A, Maffucci P, Sabic K, Van Vleck T, Nadkarni G, Denson LA, Ostrer H, Levine AP, Schiff ER, Segal AW, Kugathasan S, Stenson PD, Cooper DN, Philip Schumm L, Snapper S, Daly MJ, Haritunians T, Duerr RH, Silverberg MS, Rioux JD, Brant SR, McGovern DPB, Cho JH, Itan Y. Wu Y, et al. Among authors: cooper dn. Nat Commun. 2023 Apr 20;14(1):2256. doi: 10.1038/s41467-023-37849-3. Nat Commun. 2023. PMID: 37080976 Free PMC article.
The mutation significance cutoff: gene-level thresholds for variant predictions.
Itan Y, Shang L, Boisson B, Ciancanelli MJ, Markle JG, Martinez-Barricarte R, Scott E, Shah I, Stenson PD, Gleeson J, Cooper DN, Quintana-Murci L, Zhang SY, Abel L, Casanova JL. Itan Y, et al. Among authors: cooper dn. Nat Methods. 2016 Feb;13(2):109-10. doi: 10.1038/nmeth.3739. Nat Methods. 2016. PMID: 26820543 Free PMC article. No abstract available.
607 results