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Getting genetic ancestry right for science and society.
Lewis ACF, Molina SJ, Appelbaum PS, Dauda B, Di Rienzo A, Fuentes A, Fullerton SM, Garrison NA, Ghosh N, Hammonds EM, Jones DS, Kenny EE, Kraft P, Lee SS, Mauro M, Novembre J, Panofsky A, Sohail M, Neale BM, Allen DS. Lewis ACF, et al. Among authors: fullerton sm. Science. 2022 Apr 15;376(6590):250-252. doi: 10.1126/science.abm7530. Epub 2022 Apr 14. Science. 2022. PMID: 35420968 Free PMC article.
Inferring genetic ancestry: opportunities, challenges, and implications.
Royal CD, Novembre J, Fullerton SM, Goldstein DB, Long JC, Bamshad MJ, Clark AG. Royal CD, et al. Among authors: fullerton sm. Am J Hum Genet. 2010 May 14;86(5):661-73. doi: 10.1016/j.ajhg.2010.03.011. Am J Hum Genet. 2010. PMID: 20466090 Free PMC article.
Pangenomics: prioritize diversity in collaborations.
Cho MK, Fullerton SM, Hammonds EM, Lee SS, Panofsky A, Reardon J. Cho MK, et al. Among authors: fullerton sm. Nature. 2023 Jul;619(7971):698. doi: 10.1038/d41586-023-02248-7. Nature. 2023. PMID: 37491393 No abstract available.
Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network.
Lewis ACF, Chisholm RL, Connolly JJ, Esplin ED, Glessner J, Gordon A, Green RC, Hakonarson H, Harr M, Holm IA, Jarvik GP, Karlson E, Kenny EE, Kottyan L, Lennon N, Linder JE, Luo Y, Martin LJ, Perez E, Puckelwartz MJ, Rasmussen-Torvik LJ, Sabatello M, Sharp RR, Smoller JW, Sterling R, Terek S, Wei WQ, Fullerton SM. Lewis ACF, et al. Among authors: fullerton sm. Am J Hum Genet. 2024 Apr 29:S0002-9297(24)00120-4. doi: 10.1016/j.ajhg.2024.04.005. Online ahead of print. Am J Hum Genet. 2024. PMID: 38688278 Review.
De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population.
Kessler MD, Loesch DP, Perry JA, Heard-Costa NL, Taliun D, Cade BE, Wang H, Daya M, Ziniti J, Datta S, Celedón JC, Soto-Quiros ME, Avila L, Weiss ST, Barnes K, Redline SS, Vasan RS, Johnson AD, Mathias RA, Hernandez R, Wilson JG, Nickerson DA, Abecasis G, Browning SR, Zöllner S, O'Connell JR, Mitchell BD; National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Population Genetics Working Group; O'Connor TD. Kessler MD, et al. Proc Natl Acad Sci U S A. 2020 Feb 4;117(5):2560-2569. doi: 10.1073/pnas.1902766117. Epub 2020 Jan 21. Proc Natl Acad Sci U S A. 2020. PMID: 31964835 Free PMC article.
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale.
Li X, Li Z, Zhou H, Gaynor SM, Liu Y, Chen H, Sun R, Dey R, Arnett DK, Aslibekyan S, Ballantyne CM, Bielak LF, Blangero J, Boerwinkle E, Bowden DW, Broome JG, Conomos MP, Correa A, Cupples LA, Curran JE, Freedman BI, Guo X, Hindy G, Irvin MR, Kardia SLR, Kathiresan S, Khan AT, Kooperberg CL, Laurie CC, Liu XS, Mahaney MC, Manichaikul AW, Martin LW, Mathias RA, McGarvey ST, Mitchell BD, Montasser ME, Moore JE, Morrison AC, O'Connell JR, Palmer ND, Pampana A, Peralta JM, Peyser PA, Psaty BM, Redline S, Rice KM, Rich SS, Smith JA, Tiwari HK, Tsai MY, Vasan RS, Wang FF, Weeks DE, Weng Z, Wilson JG, Yanek LR; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Lipids Working Group; Neale BM, Sunyaev SR, Abecasis GR, Rotter JI, Willer CJ, Peloso GM, Natarajan P, Lin X. Li X, et al. Nat Genet. 2020 Sep;52(9):969-983. doi: 10.1038/s41588-020-0676-4. Epub 2020 Aug 24. Nat Genet. 2020. PMID: 32839606 Free PMC article.
Advancing genomics to improve health equity.
Madden EB, Hindorff LA, Bonham VL, Akintobi TH, Burchard EG, Baker KE, Begay RL, Carpten JD, Cox NJ, Di Francesco V, Dillard DA, Fletcher FE, Fullerton SM, Garrison NA, Hammack-Aviran CM, Hiratsuka VY, Hildreth JEK, Horowitz CR, Hughes Halbert CA, Inouye M, Jackson A, Landry LG, Kittles RA, Leek JT, Limdi NA, Lockhart NC, Ofili EO, Pérez-Stable EJ, Sabatello M, Saulsberry L, Schools LE, Troyer JL, Wilfond BS, Wojcik GL, Cho JH, Lee SS, Green ED. Madden EB, et al. Among authors: fullerton sm. Nat Genet. 2024 Apr 29. doi: 10.1038/s41588-024-01711-z. Online ahead of print. Nat Genet. 2024. PMID: 38684898 Review.
The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.
Amendola LM, Berg JS, Horowitz CR, Angelo F, Bensen JT, Biesecker BB, Biesecker LG, Cooper GM, East K, Filipski K, Fullerton SM, Gelb BD, Goddard KAB, Hailu B, Hart R, Hassmiller-Lich K, Joseph G, Kenny EE, Koenig BA, Knight S, Kwok PY, Lewis KL, McGuire AL, Norton ME, Ou J, Parsons DW, Powell BC, Risch N, Robinson M, Rini C, Scollon S, Slavotinek AM, Veenstra DL, Wasserstein MP, Wilfond BS, Hindorff LA; CSER consortium; Plon SE, Jarvik GP. Amendola LM, et al. Among authors: fullerton sm. Am J Hum Genet. 2018 Sep 6;103(3):319-327. doi: 10.1016/j.ajhg.2018.08.007. Am J Hum Genet. 2018. PMID: 30193136 Free PMC article.
192 results