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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.
Implementing Evidence-Based Assertions of Clinical Actionability in the Context of Secondary Findings: Updates from the ClinGen Actionability Working Group.
Pak CM, Gilmore MJ, Bulkley JE, Chakraborty P, Dagan-Rosenfeld O, Foreman AKM, Gollob MH, Jenkins CL, Katz AE, Lee K, Meeks N, O'Daniel JM, Posey JE, Rego SM, Shah N, Steiner RD, Stergachis AB, Subramanian SL, Trotter T, Wallace K, Williams MS, Goddard KAB, Buchanan AH, Manickam K, Powell B, Ezzell Hunter J; ClinGen Resource. Pak CM, et al. Among authors: buchanan ah. Genet Med. 2024 May 14:101164. doi: 10.1016/j.gim.2024.101164. Online ahead of print. Genet Med. 2024. PMID: 38757444 Free article.
Rare coding variants in CHRNB2 reduce the likelihood of smoking.
Rajagopal VM, Watanabe K, Mbatchou J, Ayer A, Quon P, Sharma D, Kessler MD, Praveen K, Gelfman S, Parikshak N, Otto JM, Bao S, Chim SM, Pavlopoulos E, Avbersek A, Kapoor M, Chen E, Jones MB, Leblanc M, Emberson J, Collins R, Torres J, Morales PK, Tapia-Conyer R, Alegre J, Berumen J; GHS-REGN DiscovEHR collaboration; Regeneron Genetics Center; Shuldiner AR, Balasubramanian S, Abecasis GR, Kang HM, Marchini J, Stahl EA, Jorgenson E, Sanchez R, Liedtke W, Anderson M, Cantor M, Lederer D, Baras A, Coppola G. Rajagopal VM, et al. Nat Genet. 2023 Jul;55(7):1138-1148. doi: 10.1038/s41588-023-01417-8. Epub 2023 Jun 12. Nat Genet. 2023. PMID: 37308787 Free PMC article.
Outcomes following a false positive multi-cancer early detection (MCED) test: Results from DETECT-A, the first large, prospective, interventional MCED study.
Lennon AM, Buchanan AH, Rego SP, Choudhry OA, Elias PZ, Sadler JR, Roberta J, Zhang Y, Flake DD, Honushefsky A, Salvati ZM, Sheridan K, Wagner ES, Fishman EK, Papadopoulos N, Beer TM. Lennon AM, et al. Among authors: buchanan ah. Cancer Prev Res (Phila). 2024 May 6. doi: 10.1158/1940-6207.CAPR-23-0451. Online ahead of print. Cancer Prev Res (Phila). 2024. PMID: 38705577
74 results