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Genomic data in the All of Us Research Program.
All of Us Research Program Genomics Investigators. All of Us Research Program Genomics Investigators. Nature. 2024 Mar;627(8003):340-346. doi: 10.1038/s41586-023-06957-x. Epub 2024 Feb 19. Nature. 2024. PMID: 38374255 Free PMC article.
Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program.
Venner E, Muzny D, Smith JD, Walker K, Neben CL, Lockwood CM, Empey PE, Metcalf GA, Kachulis C; All of Us Research Program Regulatory Working Group; Mian S, Musick A, Rehm HL, Harrison S, Gabriel S, Gibbs RA, Nickerson D, Zhou AY, Doheny K, Ozenberger B, Topper SE, Lennon NJ. Venner E, et al. Genome Med. 2022 Mar 28;14(1):34. doi: 10.1186/s13073-022-01031-z. Genome Med. 2022. PMID: 35346344 Free PMC article.
Utility of long-read sequencing for All of Us.
Mahmoud M, Huang Y, Garimella K, Audano PA, Wan W, Prasad N, Handsaker RE, Hall S, Pionzio A, Schatz MC, Talkowski ME, Eichler EE, Levy SE, Sedlazeck FJ. Mahmoud M, et al. Nat Commun. 2024 Jan 29;15(1):837. doi: 10.1038/s41467-024-44804-3. Nat Commun. 2024. PMID: 38281971 Free PMC article.
DNA-m6A calling and integrated long-read epigenetic and genetic analysis with fibertools.
Jha A, Bohaczuk SC, Mao Y, Ranchalis J, Mallory BJ, Min AT, Hamm MO, Swanson E, Dubocanin D, Finkbeiner C, Li T, Whittington D, Noble WS, Stergachis AB, Vollger MR. Jha A, et al. bioRxiv [Preprint]. 2023 Dec 11:2023.04.20.537673. doi: 10.1101/2023.04.20.537673. bioRxiv. 2023. Update in: Genome Res. 2024 Nov 20;34(11):1976-1986. doi: 10.1101/gr.279095.124 PMID: 37131601 Free PMC article. Updated. Preprint.