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Genetic sex validation for sample tracking in next-generation sequencing clinical testing.
Hu J, Korchina V, Zouk H, Harden MV, Murdock D, Macbeth A, Harrison SM, Lennon N, Kovar C, Balasubramanian A, Zhang L, Chandanavelli G, Pasham D, Rowley R, Wiley K, Smith ME, Gordon A, Jarvik GP, Sleiman P, Kelly MA, Bland HT, Murugan M, Venner E, Boerwinkle E; eMERGE III consortium; Prows C, Mahanta L, Rehm HL, Gibbs RA, Muzny DM. Hu J, et al. BMC Res Notes. 2024 Mar 3;17(1):62. doi: 10.1186/s13104-024-06723-w. BMC Res Notes. 2024. PMID: 38433186 Free PMC article.
Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection.
Ferar K, Hall TO, Crawford DC, Rowley R, Satterfield BA, Li R, Gragert L, Karlson EW, de Andrade M, Kullo IJ, McCarty CA, Kho A, Hayes MG, Ritchie MD, Crane PK, Mirel DB, Carlson C, Connolly JJ, Hakonarson H, Crenshaw AT, Carrell D, Luo Y, Dikilitas O, Denny JC, Jarvik GP, Crosslin DR. Ferar K, et al. Sci Rep. 2023 Oct 28;13(1):18532. doi: 10.1038/s41598-023-45649-4. Sci Rep. 2023. PMID: 37898691 Free PMC article.
Uterine fibroid polygenic risk score (PRS) associates and predicts risk for uterine fibroid.
Piekos JA, Hellwege JN, Zhang Y, Torstenson ES, Jarvik GP, Dikilitas O, Kullo IJ, Schaid DJ, Crosslin DR, Pendergrass SA, Lee MTM, Roden D, Denny JC, Edwards TL, Velez Edwards DR. Piekos JA, et al. Hum Genet. 2022 Nov;141(11):1739-1748. doi: 10.1007/s00439-022-02442-z. Epub 2022 Feb 28. Hum Genet. 2022. PMID: 35226188 Free PMC article.
Association between triglycerides, known risk SNVs and conserved rare variation in SLC25A40 in a multi-ancestry cohort.
Rosenthal EA, Crosslin DR, Gordon AS, Carrell DS, Stanaway IB, Larson EB, Grafton J, Wei WQ, Denny JC, Feng QP, Shah AS, Sturm AC, Ritchie MD, Pacheco JA, Hakonarson H, Rasmussen-Torvik LJ, Connolly JJ, Fan X, Safarova M, Kullo IJ, Jarvik GP. Rosenthal EA, et al. BMC Med Genomics. 2021 Jan 6;14(1):11. doi: 10.1186/s12920-020-00854-2. BMC Med Genomics. 2021. PMID: 33407432 Free PMC article.