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The Mutationathon highlights the importance of reaching standardization in estimates of pedigree-based germline mutation rates.
Bergeron LA, Besenbacher S, Turner T, Versoza CJ, Wang RJ, Price AL, Armstrong E, Riera M, Carlson J, Chen HY, Hahn MW, Harris K, Kleppe AS, López-Nandam EH, Moorjani P, Pfeifer SP, Tiley GP, Yoder AD, Zhang G, Schierup MH. Bergeron LA, et al. Among authors: carlson j. Elife. 2022 Jan 12;11:e73577. doi: 10.7554/eLife.73577. Elife. 2022. PMID: 35018888 Free PMC article.
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.
Taliun D, Harris DN, Kessler MD, Carlson J, Szpiech ZA, Torres R, Taliun SAG, Corvelo A, Gogarten SM, Kang HM, Pitsillides AN, LeFaive J, Lee SB, Tian X, Browning BL, Das S, Emde AK, Clarke WE, Loesch DP, Shetty AC, Blackwell TW, Smith AV, Wong Q, Liu X, Conomos MP, Bobo DM, Aguet F, Albert C, Alonso A, Ardlie KG, Arking DE, Aslibekyan S, Auer PL, Barnard J, Barr RG, Barwick L, Becker LC, Beer RL, Benjamin EJ, Bielak LF, Blangero J, Boehnke M, Bowden DW, Brody JA, Burchard EG, Cade BE, Casella JF, Chalazan B, Chasman DI, Chen YI, Cho MH, Choi SH, Chung MK, Clish CB, Correa A, Curran JE, Custer B, Darbar D, Daya M, de Andrade M, DeMeo DL, Dutcher SK, Ellinor PT, Emery LS, Eng C, Fatkin D, Fingerlin T, Forer L, Fornage M, Franceschini N, Fuchsberger C, Fullerton SM, Germer S, Gladwin MT, Gottlieb DJ, Guo X, Hall ME, He J, Heard-Costa NL, Heckbert SR, Irvin MR, Johnsen JM, Johnson AD, Kaplan R, Kardia SLR, Kelly T, Kelly S, Kenny EE, Kiel DP, Klemmer R, Konkle BA, Kooperberg C, Köttgen A, Lange LA, Lasky-Su J, Levy D, Lin X, Lin KH, Liu C, Loos RJF, Garman L, Gerszten R, Lubitz SA, Lunetta KL, Mak ACY, Manichaikul A, Manning AK, Mathias RA, McManus DD, McGarvey ST, Meigs JB, M… See abstract for full author list ➔ Taliun D, et al. Among authors: carlson j. Nature. 2021 Feb;590(7845):290-299. doi: 10.1038/s41586-021-03205-y. Epub 2021 Feb 10. Nature. 2021. PMID: 33568819 Free PMC article.
Frequency and spectrum of mutations in human sperm measured using duplex sequencing correlate with trio-based de novo mutation analyses.
Axelsson J, LeBlanc D, Shojaeisaadi H, Meier MJ, Fitzgerald DM, Nachmanson D, Carlson J, Golubeva A, Higgins J, Smith T, Lo FY, Pilsner R, Williams A, Salk J, Marchetti F, Yauk C. Axelsson J, et al. Among authors: carlson j. Sci Rep. 2024 Oct 8;14(1):23134. doi: 10.1038/s41598-024-73587-2. Sci Rep. 2024. PMID: 39379474 Free PMC article.
The battle of the sexes in humans is highly polygenic.
Cole JM, Scott CB, Johnson MM, Golightly PR, Carlson J, Ming MJ, Harpak A, Kirkpatrick M. Cole JM, et al. Among authors: carlson j. Proc Natl Acad Sci U S A. 2024 Sep 24;121(39):e2412315121. doi: 10.1073/pnas.2412315121. Epub 2024 Sep 20. Proc Natl Acad Sci U S A. 2024. PMID: 39302970
A community-maintained standard library of population genetic models.
Adrion JR, Cole CB, Dukler N, Galloway JG, Gladstein AL, Gower G, Kyriazis CC, Ragsdale AP, Tsambos G, Baumdicker F, Carlson J, Cartwright RA, Durvasula A, Gronau I, Kim BY, McKenzie P, Messer PW, Noskova E, Ortega-Del Vecchyo D, Racimo F, Struck TJ, Gravel S, Gutenkunst RN, Lohmueller KE, Ralph PL, Schrider DR, Siepel A, Kelleher J, Kern AD. Adrion JR, et al. Among authors: carlson j. Elife. 2020 Jun 23;9:e54967. doi: 10.7554/eLife.54967. Elife. 2020. PMID: 32573438 Free PMC article.
3,696 results