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Page 1
Genome-wide analysis in 756,646 individuals provides first genetic evidence that ACE2 expression influences COVID-19 risk and yields genetic risk scores predictive of severe disease.
Horowitz JE, Kosmicki JA, Damask A, Sharma D, Roberts GHL, Justice AE, Banerjee N, Coignet MV, Yadav A, Leader JB, Marcketta A, Park DS, Lanche R, Maxwell E, Knight SC, Bai X, Guturu H, Sun D, Baltzell A, Kury FSP, Backman JD, Girshick AR, O'Dushlaine C, McCurdy SR, Partha R, Mansfield AJ, Turissini DA, Li AH, Zhang M, Mbatchou J, Watanabe K, Gurski L, McCarthy SE, Kang HM, Dobbyn L, Stahl E, Verma A, Sirugo G; Regeneron Genetics Center; Ritchie MD, Jones M, Balasubramanian S, Siminovitch K, Salerno WJ, Shuldiner AR, Rader DJ, Mirshahi T, Locke AE, Marchini J, Overton JD, Carey DJ, Habegger L, Cantor MN, Rand KA, Hong EL, Reid JG, Ball CA, Baras A, Abecasis GR, Ferreira MA. Horowitz JE, et al. Among authors: kang hm. medRxiv [Preprint]. 2021 Jun 10:2020.12.14.20248176. doi: 10.1101/2020.12.14.20248176. medRxiv. 2021. Update in: Nat Genet. 2022 Apr;54(4):382-392. doi: 10.1038/s41588-021-01006-7 PMID: 33619501 Free PMC article. Updated. Preprint.
A catalog of associations between rare coding variants and COVID-19 outcomes.
Kosmicki JA, Horowitz JE, Banerjee N, Lanche R, Marcketta A, Maxwell E, Bai X, Sun D, Backman JD, Sharma D, Kang HM, O'Dushlaine C, Yadav A, Mansfield AJ, Li AH, Watanabe K, Gurski L, McCarthy SE, Locke AE, Khalid S, O'Keeffe S, Mbatchou J, Chazara O, Huang Y, Kvikstad E, O'Neill A, Nioi P, Parker MM, Petrovski S, Runz H, Szustakowski JD, Wang Q, Wong E, Cordova-Palomera A, Smith EN, Szalma S, Zheng X, Esmaeeli S, Davis JW, Lai YP, Chen X, Justice AE, Leader JB, Mirshahi T, Carey DJ, Verma A, Sirugo G, Ritchie MD, Rader DJ, Povysil G, Goldstein DB, Kiryluk K, Pairo-Castineira E, Rawlik K, Pasko D, Walker S, Meynert A, Kousathanas A, Moutsianas L, Tenesa A, Caulfield M, Scott R, Wilson JF, Baillie JK, Butler-Laporte G, Nakanishi T, Lathrop M, Richards JB; Regeneron Genetics Center; UKB Exome Sequencing Consortium; Jones M, Balasubramanian S, Salerno W, Shuldiner AR, Marchini J, Overton JD, Habegger L, Cantor MN, Reid JG, Baras A, Abecasis GR, Ferreira MA. Kosmicki JA, et al. Among authors: kang hm. medRxiv [Preprint]. 2021 Feb 27:2020.10.28.20221804. doi: 10.1101/2020.10.28.20221804. medRxiv. 2021. PMID: 33655273 Free PMC article. Preprint.
Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals.
Kosmicki JA, Horowitz JE, Banerjee N, Lanche R, Marcketta A, Maxwell E, Bai X, Sun D, Backman JD, Sharma D, Kury FSP, Kang HM, O'Dushlaine C, Yadav A, Mansfield AJ, Li AH, Watanabe K, Gurski L, McCarthy SE, Locke AE, Khalid S, O'Keeffe S, Mbatchou J, Chazara O, Huang Y, Kvikstad E, O'Neill A, Nioi P, Parker MM, Petrovski S, Runz H, Szustakowski JD, Wang Q, Wong E, Cordova-Palomera A, Smith EN, Szalma S, Zheng X, Esmaeeli S, Davis JW, Lai YP, Chen X, Justice AE, Leader JB, Mirshahi T, Carey DJ, Verma A, Sirugo G, Ritchie MD, Rader DJ, Povysil G, Goldstein DB, Kiryluk K, Pairo-Castineira E, Rawlik K, Pasko D, Walker S, Meynert A, Kousathanas A, Moutsianas L, Tenesa A, Caulfield M, Scott R, Wilson JF, Baillie JK, Butler-Laporte G, Nakanishi T, Lathrop M, Richards JB; Regeneron Genetics Center; UKB Exome Sequencing Consortium; Jones M, Balasubramanian S, Salerno W, Shuldiner AR, Marchini J, Overton JD, Habegger L, Cantor MN, Reid JG, Baras A, Abecasis GR, Ferreira MAR. Kosmicki JA, et al. Among authors: kang hm. Am J Hum Genet. 2021 Jul 1;108(7):1350-1355. doi: 10.1016/j.ajhg.2021.05.017. Epub 2021 Jun 3. Am J Hum Genet. 2021. PMID: 34115965 Free PMC article.
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD, Li AH, Marcketta A, Sun D, Mbatchou J, Kessler MD, Benner C, Liu D, Locke AE, Balasubramanian S, Yadav A, Banerjee N, Gillies CE, Damask A, Liu S, Bai X, Hawes A, Maxwell E, Gurski L, Watanabe K, Kosmicki JA, Rajagopal V, Mighty J; Regeneron Genetics Center; DiscovEHR; Jones M, Mitnaul L, Stahl E, Coppola G, Jorgenson E, Habegger L, Salerno WJ, Shuldiner AR, Lotta LA, Overton JD, Cantor MN, Reid JG, Yancopoulos G, Kang HM, Marchini J, Baras A, Abecasis GR, Ferreira MAR. Backman JD, et al. Among authors: kang hm. Nature. 2021 Nov;599(7886):628-634. doi: 10.1038/s41586-021-04103-z. Epub 2021 Oct 18. Nature. 2021. PMID: 34662886 Free PMC article.
Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease.
Horowitz JE, Kosmicki JA, Damask A, Sharma D, Roberts GHL, Justice AE, Banerjee N, Coignet MV, Yadav A, Leader JB, Marcketta A, Park DS, Lanche R, Maxwell E, Knight SC, Bai X, Guturu H, Sun D, Baltzell A, Kury FSP, Backman JD, Girshick AR, O'Dushlaine C, McCurdy SR, Partha R, Mansfield AJ, Turissini DA, Li AH, Zhang M, Mbatchou J, Watanabe K, Gurski L, McCarthy SE, Kang HM, Dobbyn L, Stahl E, Verma A, Sirugo G; Regeneron Genetics Center; Ritchie MD, Jones M, Balasubramanian S, Siminovitch K, Salerno WJ, Shuldiner AR, Rader DJ, Mirshahi T, Locke AE, Marchini J, Overton JD, Carey DJ, Habegger L, Cantor MN, Rand KA, Hong EL, Reid JG, Ball CA, Baras A, Abecasis GR, Ferreira MAR. Horowitz JE, et al. Among authors: kang hm. Nat Genet. 2022 Apr;54(4):382-392. doi: 10.1038/s41588-021-01006-7. Epub 2022 Mar 3. Nat Genet. 2022. PMID: 35241825 Free PMC article.
Germline Mutations in CIDEB and Protection against Liver Disease.
Verweij N, Haas ME, Nielsen JB, Sosina OA, Kim M, Akbari P, De T, Hindy G, Bovijn J, Persaud T, Miloscio L, Germino M, Panagis L, Watanabe K, Mbatchou J, Jones M, LeBlanc M, Balasubramanian S, Lammert C, Enhörning S, Melander O, Carey DJ, Still CD, Mirshahi T, Rader DJ, Parasoglou P, Walls JR, Overton JD, Reid JG, Economides A, Cantor MN, Zambrowicz B, Murphy AJ, Abecasis GR, Ferreira MAR, Smagris E, Gusarova V, Sleeman M, Yancopoulos GD, Marchini J, Kang HM, Karalis K, Shuldiner AR, Della Gatta G, Locke AE, Baras A, Lotta LA. Verweij N, et al. Among authors: kang hm. N Engl J Med. 2022 Jul 28;387(4):332-344. doi: 10.1056/NEJMoa2117872. N Engl J Med. 2022. PMID: 35939579
Common and rare variant associations with clonal haematopoiesis phenotypes.
Kessler MD, Damask A, O'Keeffe S, Banerjee N, Li D, Watanabe K, Marketta A, Van Meter M, Semrau S, Horowitz J, Tang J, Kosmicki JA, Rajagopal VM, Zou Y, Houvras Y, Ghosh A, Gillies C, Mbatchou J, White RR, Verweij N, Bovijn J, Parikshak NN, LeBlanc MG, Jones M; Regeneron Genetics Center; GHS-RGC DiscovEHR Collaboration; Glass DJ, Lotta LA, Cantor MN, Atwal GS, Locke AE, Ferreira MAR, Deering R, Paulding C, Shuldiner AR, Thurston G, Ferrando AA, Salerno W, Reid JG, Overton JD, Marchini J, Kang HM, Baras A, Abecasis GR, Jorgenson E. Kessler MD, et al. Among authors: kang hm. Nature. 2022 Dec;612(7939):301-309. doi: 10.1038/s41586-022-05448-9. Epub 2022 Nov 30. Nature. 2022. PMID: 36450978 Free PMC article.
Author Correction: Common and rare variant associations with clonal haematopoiesis phenotypes.
Kessler MD, Damask A, O'Keeffe S, Banerjee N, Li D, Watanabe K, Marketta A, Van Meter M, Semrau S, Horowitz J, Tang J, Kosmicki JA, Rajagopal VM, Zou Y, Houvras Y, Ghosh A, Gillies C, Mbatchou J, White RR, Verweij N, Bovijn J, Parikshak NN, LeBlanc MG, Jones M; Regeneron Genetics Center; GHS-RGC DiscovEHR Collaboration; Glass DJ, Lotta LA, Cantor MN, Atwal GS, Locke AE, Ferreira MAR, Deering R, Paulding C, Shuldiner AR, Thurston G, Ferrando AA, Salerno W, Reid JG, Overton JD, Marchini J, Kang HM, Baras A, Abecasis GR, Jorgenson E. Kessler MD, et al. Among authors: kang hm. Nature. 2023 Mar;615(7950):E3. doi: 10.1038/s41586-023-05803-4. Nature. 2023. PMID: 36807635 Free PMC article. No abstract available.
Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female-Specific Health Conditions.
Xiao B, Velez Edwards DR, Lucas A, Drivas T, Gray K, Keating B, Weng C, Jarvik GP, Hakonarson H, Kottyan L, Elhadad N, Wei WQ, Luo Y, Kim D, Ritchie M, Verma SS; Regeneron Genetics Center *. Xiao B, et al. J Am Heart Assoc. 2023 Mar 7;12(5):e026561. doi: 10.1161/JAHA.121.026561. Epub 2023 Feb 27. J Am Heart Assoc. 2023. PMID: 36846987 Free PMC article.
A deep catalog of protein-coding variation in 985,830 individuals.
Sun KY, Bai X, Chen S, Bao S, Kapoor M, Zhang C, Backman J, Joseph T, Maxwell E, Mitra G, Gorovits A, Mansfield A, Boutkov B, Gokhale S, Habegger L, Marcketta A, Locke A, Kessler MD, Sharma D, Staples J, Bovijn J, Gelfman S, Gioia AD, Rajagopal V, Lopez A, Varela JR, Alegre J, Berumen J, Tapia-Conyer R, Kuri-Morales P, Torres J, Emberson J, Collins R; Regeneron Genetics Center; RGC-ME Cohort Partners; Cantor M, Thornton T, Kang HM, Overton J, Shuldiner AR, Cremona ML, Nafde M, Baras A, Abecasis G, Marchini J, Reid JG, Salerno W, Balasubramanian S. Sun KY, et al. Among authors: kang hm. bioRxiv [Preprint]. 2023 Nov 2:2023.05.09.539329. doi: 10.1101/2023.05.09.539329. bioRxiv. 2023. PMID: 37214792 Free PMC article. Preprint.
707 results