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Page 1
Building pangenome graphs.
Garrison E, Guarracino A, Heumos S, Villani F, Bao Z, Tattini L, Hagmann J, Vorbrugg S, Marco-Sola S, Kubica C, Ashbrook DG, Thorell K, Rusholme-Pilcher RL, Liti G, Rudbeck E, Golicz AA, Nahnsen S, Yang Z, Mwaniki MN, Nobrega FL, Wu Y, Chen H, de Ligt J, Sudmant PH, Huang S, Weigel D, Soranzo N, Colonna V, Williams RW, Prins P. Garrison E, et al. Among authors: soranzo n. Nat Methods. 2024 Nov;21(11):2008-2012. doi: 10.1038/s41592-024-02430-3. Epub 2024 Oct 21. Nat Methods. 2024. PMID: 39433878
microGalaxy: A gateway to tools, workflows, and training for reproducible and FAIR analysis of microbial data.
Nasr E, Amato P, Bhardwaj A, Blankenberg D, Brites D, Cumbo F, Do K, Ferrari E, Griffin TJ, Gruening B, Hiltemann S, Jagtap P, Mehta S, Métris KL, Momin S, Oba A, Pavloudi C, Pechlivanis N, Péguilhan R, Psomopoulos F, Rosic N, Schatz MC, Schiml VC, Siguret C, Soranzo N, Stubbs A, Van Heusden P, Vohra M; microGalaxy Community; Zierep P, Batut B. Nasr E, et al. Among authors: soranzo n. bioRxiv [Preprint]. 2024 Dec 27:2024.12.23.629682. doi: 10.1101/2024.12.23.629682. bioRxiv. 2024. PMID: 39764050 Free PMC article. Preprint.
Misexpression of inactive genes in whole blood is associated with nearby rare structural variants.
Vanderstichele T, Burnham KL, de Klein N, Tardaguila M, Howell B, Walter K, Kundu K, Koeppel J, Lee W, Tokolyi A, Persyn E, Nath AP, Marten J, Petrovski S, Roberts DJ, Di Angelantonio E, Danesh J, Berton A, Platt A, Butterworth AS, Soranzo N, Parts L, Inouye M, Paul DS, Davenport EE. Vanderstichele T, et al. Among authors: soranzo n. Am J Hum Genet. 2024 Aug 8;111(8):1524-1543. doi: 10.1016/j.ajhg.2024.06.017. Epub 2024 Jul 24. Am J Hum Genet. 2024. PMID: 39053458 Free PMC article.
Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction.
Schormair B, Zhao C, Bell S, Didriksen M, Nawaz MS, Schandra N, Stefani A, Högl B, Dauvilliers Y, Bachmann CG, Kemlink D, Sonka K, Paulus W, Trenkwalder C, Oertel WH, Hornyak M, Teder-Laving M, Metspalu A, Hadjigeorgiou GM, Polo O, Fietze I, Ross OA, Wszolek ZK, Ibrahim A, Bergmann M, Kittke V, Harrer P, Dowsett J, Chenini S, Ostrowski SR, Sørensen E, Erikstrup C, Pedersen OB, Topholm Bruun M, Nielsen KR, Butterworth AS, Soranzo N, Ouwehand WH, Roberts DJ, Danesh J, Burchell B, Furlotte NA, Nandakumar P; 23andMe Research Team; D.E.S.I.R. study group; Earley CJ, Ondo WG, Xiong L, Desautels A, Perola M, Vodicka P, Dina C, Stoll M, Franke A, Lieb W, Stewart AFR, Shah SH, Gieger C, Peters A, Rye DB, Rouleau GA, Berger K, Stefansson H, Ullum H, Stefansson K, Hinds DA, Di Angelantonio E, Oexle K, Winkelmann J. Schormair B, et al. Among authors: soranzo n. Nat Genet. 2024 Jun;56(6):1090-1099. doi: 10.1038/s41588-024-01763-1. Epub 2024 Jun 5. Nat Genet. 2024. PMID: 38839884 Free PMC article.
Inherited polygenic effects on common hematological traits influence clonal selection on JAK2V617F and the development of myeloproliferative neoplasms.
Guo J, Walter K, Quiros PM, Gu M, Baxter EJ, Danesh J, Di Angelantonio E, Roberts D, Guglielmelli P, Harrison CN, Godfrey AL, Green AR, Vassiliou GS, Vuckovic D, Nangalia J, Soranzo N. Guo J, et al. Among authors: soranzo n. Nat Genet. 2024 Feb;56(2):273-280. doi: 10.1038/s41588-023-01638-x. Epub 2024 Jan 17. Nat Genet. 2024. PMID: 38233595 Free PMC article.
A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.
Akbari P, Vuckovic D, Stefanucci L, Jiang T, Kundu K, Kreuzhuber R, Bao EL, Collins JH, Downes K, Grassi L, Guerrero JA, Kaptoge S, Knight JC, Meacham S, Sambrook J, Seyres D, Stegle O, Verboon JM, Walter K, Watkins NA, Danesh J, Roberts DJ, Di Angelantonio E, Sankaran VG, Frontini M, Burgess S, Kuijpers T, Peters JE, Butterworth AS, Ouwehand WH, Soranzo N, Astle WJ. Akbari P, et al. Among authors: soranzo n. Nat Commun. 2023 Aug 18;14(1):5023. doi: 10.1038/s41467-023-40679-y. Nat Commun. 2023. PMID: 37596262 Free PMC article.
350 results