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Page 1
Returning integrated genomic risk and clinical recommendations: The eMERGE study.
Linder JE, Allworth A, Bland HT, Caraballo PJ, Chisholm RL, Clayton EW, Crosslin DR, Dikilitas O, DiVietro A, Esplin ED, Forman S, Freimuth RR, Gordon AS, Green R, Harden MV, Holm IA, Jarvik GP, Karlson EW, Labrecque S, Lennon NJ, Limdi NA, Mittendorf KF, Murphy SN, Orlando L, Prows CA, Rasmussen LV, Rasmussen-Torvik L, Rowley R, Sawicki KT, Schmidlen T, Terek S, Veenstra D, Velez Edwards DR, Absher D, Abul-Husn NS, Alsip J, Bangash H, Beasley M, Below JE, Berner ES, Booth J, Chung WK, Cimino JJ, Connolly J, Davis P, Devine B, Fullerton SM, Guiducci C, Habrat ML, Hain H, Hakonarson H, Harr M, Haverfield E, Hernandez V, Hoell C, Horike-Pyne M, Hripcsak G, Irvin MR, Kachulis C, Karavite D, Kenny EE, Khan A, Kiryluk K, Korf B, Kottyan L, Kullo IJ, Larkin K, Liu C, Malolepsza E, Manolio TA, May T, McNally EM, Mentch F, Miller A, Mooney SD, Murali P, Mutai B, Muthu N, Namjou B, Perez EF, Puckelwartz MJ, Rakhra-Burris T, Roden DM, Rosenthal EA, Saadatagah S, Sabatello M, Schaid DJ, Schultz B, Seabolt L, Shaibi GQ, Sharp RR, Shirts B, Smith ME, Smoller JW, Sterling R, Suckiel SA, Thayer J, Tiwari HK, Trinidad SB, Walunas T, Wei WQ, Wells QS, Weng C, Wiesner GL, Wiley K; eMERGE Con… See abstract for full author list ➔ Linder JE, et al. Among authors: schaid dj. Genet Med. 2023 Apr;25(4):100006. doi: 10.1016/j.gim.2023.100006. Epub 2023 Jan 6. Genet Med. 2023. PMID: 36621880 Free PMC article.
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.
eMERGE Consortium. Electronic address: agibbs@bcm.edu; eMERGE Consortium. eMERGE Consortium. Electronic address: agibbs@bcm.edu, et al. Am J Hum Genet. 2019 Sep 5;105(3):588-605. doi: 10.1016/j.ajhg.2019.07.018. Epub 2019 Aug 22. Am J Hum Genet. 2019. PMID: 31447099 Free PMC article.
Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations.
Lennon NJ, Kottyan LC, Kachulis C, Abul-Husn N, Arias J, Belbin G, Below JE, Berndt S, Chung W, Cimino JJ, Clayton EW, Connolly JJ, Crosslin D, Dikilitas O, Velez Edwards DR, Feng Q, Fisher M, Freimuth R, Ge T; GIANT Consortium; All of Us Research Program; Glessner JT, Gordon A, Guiducci C, Hakonarson H, Harden M, Harr M, Hirschhorn J, Hoggart C, Hsu L, Irvin R, Jarvik GP, Karlson EW, Khan A, Khera A, Kiryluk K, Kullo I, Larkin K, Limdi N, Linder JE, Loos R, Luo Y, Malolepsza E, Manolio T, Martin LJ, McCarthy L, Meigs JB, Mersha TB, Mosley J, Namjou B, Pai N, Pesce LL, Peters U, Peterson J, Prows CA, Puckelwartz MJ, Rehm H, Roden D, Rosenthal EA, Rowley R, Sawicki KT, Schaid D, Schmidlen T, Smit R, Smith J, Smoller JW, Thomas M, Tiwari H, Toledo D, Vaitinadin NS, Veenstra D, Walunas T, Wang Z, Wei WQ, Weng C, Wiesner G, Xianyong Y, Kenny E. Lennon NJ, et al. medRxiv [Preprint]. 2023 Jun 5:2023.05.25.23290535. doi: 10.1101/2023.05.25.23290535. medRxiv. 2023. PMID: 37333246 Free PMC article. Updated. Preprint.
A Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization.
Smith JL, Tcheandjieu C, Dikilitas O, Lyer K, Miyazawa K, Hilliard A, Lynch J, Rotter JI, Chen YI, Sheu WH, Chang KM, Kanoni S, Tsao P, Ito K, Kosel M, Clarke SL, Schaid DJ, Assimes TL, Kullo IJ. Smith JL, et al. Among authors: schaid dj. medRxiv [Preprint]. 2023 Jun 6:2023.06.02.23290896. doi: 10.1101/2023.06.02.23290896. medRxiv. 2023. PMID: 37609230 Free PMC article. Updated. Preprint.
Principles and methods for transferring polygenic risk scores across global populations.
Kachuri L, Chatterjee N, Hirbo J, Schaid DJ, Martin I, Kullo IJ, Kenny EE, Pasaniuc B; Polygenic Risk Methods in Diverse Populations (PRIMED) Consortium Methods Working Group; Witte JS, Ge T. Kachuri L, et al. Among authors: schaid dj. Nat Rev Genet. 2024 Jan;25(1):8-25. doi: 10.1038/s41576-023-00637-2. Epub 2023 Aug 24. Nat Rev Genet. 2024. PMID: 37620596 Free PMC article. Review.
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations.
Lennon NJ, Kottyan LC, Kachulis C, Abul-Husn NS, Arias J, Belbin G, Below JE, Berndt SI, Chung WK, Cimino JJ, Clayton EW, Connolly JJ, Crosslin DR, Dikilitas O, Velez Edwards DR, Feng Q, Fisher M, Freimuth RR, Ge T; GIANT Consortium; All of Us Research Program; Glessner JT, Gordon AS, Patterson C, Hakonarson H, Harden M, Harr M, Hirschhorn JN, Hoggart C, Hsu L, Irvin MR, Jarvik GP, Karlson EW, Khan A, Khera A, Kiryluk K, Kullo I, Larkin K, Limdi N, Linder JE, Loos RJF, Luo Y, Malolepsza E, Manolio TA, Martin LJ, McCarthy L, McNally EM, Meigs JB, Mersha TB, Mosley JD, Musick A, Namjou B, Pai N, Pesce LL, Peters U, Peterson JF, Prows CA, Puckelwartz MJ, Rehm HL, Roden DM, Rosenthal EA, Rowley R, Sawicki KT, Schaid DJ, Smit RAJ, Smith JL, Smoller JW, Thomas M, Tiwari H, Toledo DM, Vaitinadin NS, Veenstra D, Walunas TL, Wang Z, Wei WQ, Weng C, Wiesner GL, Yin X, Kenny EE. Lennon NJ, et al. Among authors: schaid dj. Nat Med. 2024 Feb;30(2):480-487. doi: 10.1038/s41591-024-02796-z. Epub 2024 Feb 19. Nat Med. 2024. PMID: 38374346 Free PMC article.
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.
406 results