optiCall: a robust genotype-calling algorithm for rare, low-frequency and common variants - PubMed (original) (raw)

Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci.

International Genetics of Ankylosing Spondylitis Consortium (IGAS); Cortes A, Hadler J, Pointon JP, Robinson PC, Karaderi T, Leo P, Cremin K, Pryce K, Harris J, Lee S, Joo KB, Shim SC, Weisman M, Ward M, Zhou X, Garchon HJ, Chiocchia G, Nossent J, Lie BA, Førre Ø, Tuomilehto J, Laiho K, Jiang L, Liu Y, Wu X, Bradbury LA, Elewaut D, Burgos-Vargas R, Stebbings S, Appleton L, Farrah C, Lau J, Kenna TJ, Haroon N, Ferreira MA, Yang J, Mulero J, Fernandez-Sueiro JL, Gonzalez-Gay MA, Lopez-Larrea C, Deloukas P, Donnelly P; Australo-Anglo-American Spondyloarthritis Consortium (TASC); Groupe Française d'Etude Génétique des Spondylarthrites (GFEGS); Nord-Trøndelag Health Study (HUNT); Spondyloarthritis Research Consortium of Canada (SPARCC); Wellcome Trust Case Control Consortium 2 (WTCCC2); Bowness P, Gafney K, Gaston H, Gladman DD, Rahman P, Maksymowych WP, Xu H, Crusius JB, van der Horst-Bruinsma IE, Chou CT, Valle-Oñate R, Romero-Sánchez C, Hansen IM, Pimentel-Santos FM, Inman RD, Videm V, Martin J, Breban M, Reveille JD, Evans DM, Kim TH, Wordsworth BP, Brown MA. International Genetics of Ankylosing Spondylitis Consortium (IGAS), et al. Nat Genet. 2013 Jul;45(7):730-8. doi: 10.1038/ng.2667. Epub 2013 Jun 9. Nat Genet. 2013. PMID: 23749187 Free PMC article.

Inter-individual variability and genetic influences on cytokine responses to bacteria and fungi.

Li Y, Oosting M, Deelen P, Ricaño-Ponce I, Smeekens S, Jaeger M, Matzaraki V, Swertz MA, Xavier RJ, Franke L, Wijmenga C, Joosten LA, Kumar V, Netea MG. Li Y, et al. Nat Med. 2016 Aug;22(8):952-60. doi: 10.1038/nm.4139. Epub 2016 Jul 4. Nat Med. 2016. PMID: 27376574 Free PMC article.

Interplay of host genetics and gut microbiota underlying the onset and clinical presentation of inflammatory bowel disease.

Imhann F, Vich Vila A, Bonder MJ, Fu J, Gevers D, Visschedijk MC, Spekhorst LM, Alberts R, Franke L, van Dullemen HM, Ter Steege RWF, Huttenhower C, Dijkstra G, Xavier RJ, Festen EAM, Wijmenga C, Zhernakova A, Weersma RK. Imhann F, et al. Gut. 2018 Jan;67(1):108-119. doi: 10.1136/gutjnl-2016-312135. Epub 2016 Oct 8. Gut. 2018. PMID: 27802154 Free PMC article.

Differences in thrombin and plasmin generation potential between East African and Western European adults: The role of genetic and non-genetic factors.

Temba GS, Vadaq N, Wan J, Kullaya V, Huskens D, Pecht T, Jaeger M, Boahen CK, Matzaraki V, Broeders W, Joosten LAB, Faradz SMH, Kibiki G, Middeldorp S, Cavalieri D, Lionetti P, de Groot PG, Schultze JL, Netea MG, Kumar V, de Laat B, Mmbaga BT, van der Ven AJ, Roest M, de Mast Q. Temba GS, et al. J Thromb Haemost. 2022 May;20(5):1089-1105. doi: 10.1111/jth.15657. Epub 2022 Feb 10. J Thromb Haemost. 2022. PMID: 35102686 Free PMC article.

The 1000IBD project: multi-omics data of 1000 inflammatory bowel disease patients; data release 1.

Imhann F, Van der Velde KJ, Barbieri R, Alberts R, Voskuil MD, Vich Vila A, Collij V, Spekhorst LM, Van der Sloot KWJ, Peters V, Van Dullemen HM, Visschedijk MC, Festen EAM, Swertz MA, Dijkstra G, Weersma RK. Imhann F, et al. BMC Gastroenterol. 2019 Jan 8;19(1):5. doi: 10.1186/s12876-018-0917-5. BMC Gastroenterol. 2019. PMID: 30621600 Free PMC article.