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2019 2
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PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions.
Olson ND, Wagner J, McDaniel J, Stephens SH, Westreich ST, Prasanna AG, Johanson E, Boja E, Maier EJ, Serang O, Jáspez D, Lorenzo-Salazar JM, Muñoz-Barrera A, Rubio-Rodríguez LA, Flores C, Kyriakidis K, Malousi A, Shafin K, Pesout T, Jain M, Paten B, Chang PC, Kolesnikov A, Nattestad M, Baid G, Goel S, Yang H, Carroll A, Eveleigh R, Bourgey M, Bourque G, Li G, Ma C, Tang L, Du Y, Zhang S, Morata J, Tonda R, Parra G, Trotta JR, Brueffer C, Demirkaya-Budak S, Kabakci-Zorlu D, Turgut D, Kalay Ö, Budak G, Narcı K, Arslan E, Brown R, Johnson IJ, Dolgoborodov A, Semenyuk V, Jain A, Tetikol HS, Jain V, Ruehle M, Lajoie B, Roddey C, Catreux S, Mehio R, Ahsan MU, Liu Q, Wang K, Sahraeian SME, Fang LT, Mohiyuddin M, Hung C, Jain C, Feng H, Li Z, Chen L, Sedlazeck FJ, Zook JM. Olson ND, et al. Among authors: demirkaya budak s. Cell Genom. 2022 May 11;2(5):100129. doi: 10.1016/j.xgen.2022.100129. Epub 2022 Apr 27. Cell Genom. 2022. PMID: 35720974 Free PMC article.
Automated Identification of Germline de novo Mutations in Family Trios: A Consensus-Based Informatic Approach.
Shadrina M, Kalay Ö, Demirkaya-Budak S, LeDuc CA, Chung WK, Turgut D, Budak G, Arslan E, Semenyuk V, Davis-Dusenbery B, Seidman CE, Yost HJ, Jain A, Gelb BD. Shadrina M, et al. Among authors: demirkaya budak s. bioRxiv [Preprint]. 2024 Mar 13:2024.03.08.584100. doi: 10.1101/2024.03.08.584100. bioRxiv. 2024. PMID: 38559260 Free PMC article. Preprint.
Paraoxonase 1 (PON1) promoter (-107T/C) and coding region (192Q/R and 55L/M) genetic variations in pseudoexfoliation syndrome and pseudoexfoliative glaucoma risk.
Can Demirdöğen B, Koçan Akçin C, Göksoy E, Yakar G, Öztepe T, Demirkaya-Budak S, Oflaz S. Can Demirdöğen B, et al. Among authors: demirkaya budak s. Graefes Arch Clin Exp Ophthalmol. 2019 Oct;257(10):2257-2270. doi: 10.1007/s00417-019-04408-w. Epub 2019 Jul 10. Graefes Arch Clin Exp Ophthalmol. 2019. PMID: 31292763