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Page 1
The variant call format and VCFtools.
Danecek P, Auton A, Abecasis G, Albers CA, Banks E, DePristo MA, Handsaker RE, Lunter G, Marth GT, Sherry ST, McVean G, Durbin R; 1000 Genomes Project Analysis Group. Danecek P, et al. Bioinformatics. 2011 Aug 1;27(15):2156-8. doi: 10.1093/bioinformatics/btr330. Epub 2011 Jun 7. Bioinformatics. 2011. PMID: 21653522 Free PMC article.
Whole-genome sequencing of 490,640 UK Biobank participants.
UK Biobank Whole-Genome Sequencing Consortium. UK Biobank Whole-Genome Sequencing Consortium. Nature. 2025 Sep;645(8081):692-701. doi: 10.1038/s41586-025-09272-9. Epub 2025 Aug 6. Nature. 2025. PMID: 40770095 Free PMC article.
Role of human plasma metabolites in prediabetes and type 2 diabetes from the IMI-DIRECT study.
Sharma S, Dong Q, Haid M, Adam J, Bizzotto R, Fernandez-Tajes JJ, Jones AG, Tura A, Artati A, Prehn C, Kastenmüller G, Koivula RW, Franks PW, Walker M, Forgie IM, Giordano G, Pavo I, Ruetten H, Dermitzakis M, McCarthy MI, Pedersen O, Schwenk JM, Tsirigos KD, De Masi F, Brunak S, Viñuela A, Mari A, McDonald TJ, Kokkola T, Adamski J, Pearson ER, Grallert H. Sharma S, et al. Among authors: dermitzakis m. Diabetologia. 2024 Dec;67(12):2804-2818. doi: 10.1007/s00125-024-06282-6. Epub 2024 Sep 30. Diabetologia. 2024. PMID: 39349772 Free PMC article.
RNAget: an API to securely retrieve RNA quantifications.
Upchurch S, Palumbo E, Adams J, Bujold D, Bourque G, Nedzel J, Graham K, Kagda MS, Assis P, Hitz B, Righi E, Guigó R, Wold BJ; GA4GH RNA-Seq Task Team. Upchurch S, et al. Bioinformatics. 2023 Apr 3;39(4):btad126. doi: 10.1093/bioinformatics/btad126. Bioinformatics. 2023. PMID: 36897015 Free PMC article.
SPHN - The Swiss Aging Citizen Reference (SACR).
Jeong A, Bochud M, Cattin P, Dermitzakis M, Draganski B, Papassotiropoulos A, Preisig M, Stieltjes B, Vollenweider P, Probst-Hensch N. Jeong A, et al. Among authors: dermitzakis m. Stud Health Technol Inform. 2020 Jun 16;270:1168-1169. doi: 10.3233/SHTI200347. Stud Health Technol Inform. 2020. PMID: 32570565
Patients' preferences for headache acute and preventive treatment.
Mitsikostas DD, Belesioti I, Arvaniti C, Mitropoulou E, Deligianni C, Kasioti E, Constantinidis T, Dermitzakis M, Vikelis M; Hellenic Headache Society. Mitsikostas DD, et al. Among authors: dermitzakis m. J Headache Pain. 2017 Oct 6;18(1):102. doi: 10.1186/s10194-017-0813-3. J Headache Pain. 2017. PMID: 28986900 Free PMC article.
The Genetic Architecture of Gene Expression in Peripheral Blood.
Lloyd-Jones LR, Holloway A, McRae A, Yang J, Small K, Zhao J, Zeng B, Bakshi A, Metspalu A, Dermitzakis M, Gibson G, Spector T, Montgomery G, Esko T, Visscher PM, Powell JE. Lloyd-Jones LR, et al. Among authors: dermitzakis m. Am J Hum Genet. 2017 Feb 2;100(2):228-237. doi: 10.1016/j.ajhg.2016.12.008. Epub 2017 Jan 5. Am J Hum Genet. 2017. PMID: 28065468 Free PMC article.
The Genetic Architecture of Gene Expression in Peripheral Blood.
Lloyd-Jones LR, Holloway A, McRae A, Yang J, Small K, Zhao J, Zeng B, Bakshi A, Metspalu A, Dermitzakis M, Gibson G, Spector T, Montgomery G, Esko T, Visscher PM, Powell JE. Lloyd-Jones LR, et al. Among authors: dermitzakis m. Am J Hum Genet. 2017 Feb 2;100(2):371. doi: 10.1016/j.ajhg.2017.01.026. Am J Hum Genet. 2017. PMID: 28157541 Free PMC article. No abstract available.