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Page 1
Multi-ancestry meta-analysis of tobacco use disorder identifies 461 potential risk genes and reveals associations with multiple health outcomes.
Toikumo S, Jennings MV, Pham BK, Lee H, Mallard TT, Bianchi SB, Meredith JJ, Vilar-Ribó L, Xu H, Hatoum AS, Johnson EC, Pazdernik VK, Jinwala Z, Pakala SR, Leger BS, Niarchou M, Ehinmowo M; Penn Medicine BioBank; Jenkins GD, Batzler A, Pendegraft R, Palmer AA, Zhou H, Biernacka JM, Coombes BJ, Gelernter J, Xu K, Hancock DB, Cox NJ, Smoller JW, Davis LK, Justice AC, Kranzler HR, Kember RL, Sanchez-Roige S. Toikumo S, et al. Among authors: cox nj. Nat Hum Behav. 2024 Apr 17. doi: 10.1038/s41562-024-01851-6. Online ahead of print. Nat Hum Behav. 2024. PMID: 38632388
Genetic effects on gene expression across human tissues.
GTEx Consortium; Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group; Statistical Methods groups—Analysis Working Group; Enhancing GTEx (eGTEx) groups; NIH Common Fund; NIH/NCI; NIH/NHGRI; NIH/NIMH; NIH/NIDA; Biospecimen Collection Source Site—NDRI; Biospecimen Collection Source Site—RPCI; Biospecimen Core Resource—VARI; Brain Bank Repository—University of Miami Brain Endowment Bank; Leidos Biomedical—Project Management; ELSI Study; Genome Browser Data Integration &Visualization—EBI; Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz; Lead analysts:; Laboratory, Data Analysis &Coordinating Center (LDACC):; NIH program management:; Biospecimen collection:; Pathology:; eQTL manuscript working group:; Battle A, Brown CD, Engelhardt BE, Montgomery SB. GTEx Consortium, et al. Nature. 2017 Oct 11;550(7675):204-213. doi: 10.1038/nature24277. Nature. 2017. PMID: 29022597 Free PMC article.
Determinants of mosaic chromosomal alteration fitness.
Pershad Y, Mack T, Poisner H, Jakubek YA, Stilp AM, Mitchell BD, Lewis JP, Boerwinkle E, Loos RJF, Chami N, Wang Z, Barnes K, Pankratz N, Fornage M, Redline S, Psaty BM, Bis JC, Shojaie A, Silverman EK, Cho MH, Yun JH, DeMeo D, Levy D, Johnson AD, Mathias RA, Taub MA, Arnett D, North KE, Raffield LM, Carson AP, Doyle MF, Rich SS, Rotter JI, Guo X, Cox NJ, Roden DM, Franceschini N, Desai P, Reiner AP, Auer PL, Scheet PA, Jaiswal S, Weinstock JS, Bick AG. Pershad Y, et al. Among authors: cox nj. Nat Commun. 2024 May 7;15(1):3800. doi: 10.1038/s41467-024-48190-8. Nat Commun. 2024. PMID: 38714703 Free PMC article.
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG; Exome Aggregation Consortium. Lek M, et al. Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057. Nature. 2016. PMID: 27535533 Free PMC article.
Improving polygenic risk prediction in admixed populations by explicitly modeling ancestral-differential effects via GAUDI.
Sun Q, Rowland BT, Chen J, Mikhaylova AV, Avery C, Peters U, Lundin J, Matise T, Buyske S, Tao R, Mathias RA, Reiner AP, Auer PL, Cox NJ, Kooperberg C, Thornton TA, Raffield LM, Li Y. Sun Q, et al. Among authors: cox nj. Nat Commun. 2024 Feb 3;15(1):1016. doi: 10.1038/s41467-024-45135-z. Nat Commun. 2024. PMID: 38310129 Free PMC article.
A phenome-wide comparative analysis of genetic discordance between obesity and type 2 diabetes.
Coral DE, Fernandez-Tajes J, Tsereteli N, Pomares-Millan H, Fitipaldi H, Mutie PM, Atabaki-Pasdar N, Kalamajski S, Poveda A, Miller-Fleming TW, Zhong X, Giordano GN, Pearson ER, Cox NJ, Franks PW. Coral DE, et al. Among authors: cox nj. Nat Metab. 2023 Feb;5(2):237-247. doi: 10.1038/s42255-022-00731-5. Epub 2023 Jan 26. Nat Metab. 2023. PMID: 36703017 Free PMC article.
Mosaic chromosomal alterations in blood across ancestries using whole-genome sequencing.
Jakubek YA, Zhou Y, Stilp A, Bacon J, Wong JW, Ozcan Z, Arnett D, Barnes K, Bis JC, Boerwinkle E, Brody JA, Carson AP, Chasman DI, Chen J, Cho M, Conomos MP, Cox N, Doyle MF, Fornage M, Guo X, Kardia SLR, Lewis JP, Loos RJF, Ma X, Machiela MJ, Mack TM, Mathias RA, Mitchell BD, Mychaleckyj JC, North K, Pankratz N, Peyser PA, Preuss MH, Psaty B, Raffield LM, Vasan RS, Redline S, Rich SS, Rotter JI, Silverman EK, Smith JA, Smith AP, Taub M, Taylor KD, Yun J, Li Y, Desai P, Bick AG, Reiner AP, Scheet P, Auer PL. Jakubek YA, et al. Nat Genet. 2023 Nov;55(11):1912-1919. doi: 10.1038/s41588-023-01553-1. Epub 2023 Oct 30. Nat Genet. 2023. PMID: 37904051 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: cox nj. Nat Genet. 2024 May;56(5):752-757. doi: 10.1038/s41588-024-01711-z. Epub 2024 Apr 29. Nat Genet. 2024. PMID: 38684898 Free PMC article. Review.
The high-dimensional space of human diseases built from diagnosis records and mapped to genetic loci.
Jia G, Li Y, Zhong X, Wang K, Pividori M, Alomairy R, Esposito A, Ltaief H, Terao C, Akiyama M, Matsuda K, Keyes DE, Im HK, Gojobori T, Kamatani Y, Kubo M, Cox NJ, Evans J, Gao X, Rzhetsky A. Jia G, et al. Among authors: cox nj. Nat Comput Sci. 2023 May;3(5):403-417. doi: 10.1038/s43588-023-00453-y. Epub 2023 May 22. Nat Comput Sci. 2023. PMID: 38177845 Free PMC article.
Author Correction: The high-dimensional space of human diseases built from diagnosis records and mapped to genetic loci.
Jia G, Li Y, Zhong X, Wang K, Pividori M, Alomairy R, Esposito A, Ltaief H, Terao C, Akiyama M, Matsuda K, Keyes DE, Im HK, Gojobori T, Kamatani Y, Kubo M, Cox NJ, Evans J, Gao X, Rzhetsky A. Jia G, et al. Among authors: cox nj. Nat Comput Sci. 2023 Jul;3(7):658. doi: 10.1038/s43588-023-00488-1. Nat Comput Sci. 2023. PMID: 38214655 Free PMC article. No abstract available.
676 results