Rare copy number variant analysis in case–control studies using snp array data: a scalable and automated data analysis pipeline.

Autor: Artaza, Haydee^1,2 (AUTHOR), Lavrichenko, Ksenia^1,3 (AUTHOR), Wolff, Anette S. B.^1,4 (AUTHOR), Røyrvik, Ellen C.^1,5 (AUTHOR), Vaudel, Marc^5,6 (AUTHOR), Johansson, Stefan^6,7 (AUTHOR) Stefan.Johansson@uib.no

Publikováno v: BMC Bioinformatics. 11/15/2024, Vol. 25 Issue 1, p1-13. 13p.

Identification and characterization of rare toll-like receptor 3 variants in patients with autoimmune Addison's disease

Autor: Aslaksen, Sigrid, Wolff, Anette B., Vigeland, Magnus D., Breivik, Lars, Sheng, Ying, Oftedal, Bergithe E., Artaza, Haydee, Skinningsrud, Beate, Undlien, Dag E., Selmer, Kaja K., Husebye, Eystein S., Bratland, Eirik

Publikováno v: In Journal of Translational Autoimmunity April 2019 1

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GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility.

Autor: Eriksson D; Centre for Molecular Medicine, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden.; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden., Røyrvik EC; Department of Clinical Science, University of Bergen, Bergen, Norway.; K.G. Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway., Aranda-Guillén M; Centre for Molecular Medicine, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden., Berger AH; Department of Clinical Science, University of Bergen, Bergen, Norway.; K.G. Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway.; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Landegren N; Centre for Molecular Medicine, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden.; Science for Life Laboratory, Department of Medical Sciences, Uppsala University, Uppsala, Sweden., Artaza H; Department of Clinical Science, University of Bergen, Bergen, Norway.; K.G. Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway., Hallgren Å; Centre for Molecular Medicine, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden., Grytaas MA; Department of Clinical Science, University of Bergen, Bergen, Norway.; Department of Medicine, Haukeland University Hospital, Bergen, Norway., Ström S; Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Bratland E; Department of Clinical Science, University of Bergen, Bergen, Norway.; K.G. Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway.; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Botusan IR; Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Oftedal BE; Department of Clinical Science, University of Bergen, Bergen, Norway.; K.G. Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway., Breivik L; Department of Clinical Science, University of Bergen, Bergen, Norway.; Department of Medicine, Haukeland University Hospital, Bergen, Norway., Vaudel M; Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway., Helgeland Ø; Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway.; Department of Genetics and Bioinformatics, Domain of Health Data and Digitalisation, Institute of Public Health, Oslo, Norway., Falorni A; Department of Medicine, University of Perugia, Perugia, Italy., Jørgensen AP; Section of Specialized Endocrinology, Department of Endocrinology, Oslo University Hospital, Oslo, Norway., Hulting AL; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Svartberg J; Tromsø Endocrine Research Group, Department of Clinical Medicine, UiT The Arctic University of Norway, Tromsø, Norway.; Division of Internal Medicine, University Hospital of North Norway, Tromsø, Norway., Ekwall O; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Fougner KJ; Department of Endocrinology, St. Olavs Hospital, Trondheim, Norway., Wahlberg J; Department of Endocrinology, Linköping University, Linköping, Sweden.; Department of Health, Medicine and Caring Sciences, Linköping University, Linköping, Sweden., Nedrebø BG; Department of Clinical Science, University of Bergen, Bergen, Norway.; Department of Internal Medicine, Haugesund Hospital, Haugesund, Norway., Dahlqvist P; Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden., Knappskog PM; Department of Clinical Science, University of Bergen, Bergen, Norway.; K.G. Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway.; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Wolff ASB; Department of Clinical Science, University of Bergen, Bergen, Norway.; K.G. Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway., Bensing S; Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Johansson S; Department of Clinical Science, University of Bergen, Bergen, Norway.; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Kämpe O; Centre for Molecular Medicine, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden. olle.kampe@ki.se.; Department of Clinical Science, University of Bergen, Bergen, Norway. olle.kampe@ki.se.; K.G. Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway. olle.kampe@ki.se.; Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden. olle.kampe@ki.se., Husebye ES; Centre for Molecular Medicine, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden. eystein.sverre.husebye@helse-bergen.no.; Department of Clinical Science, University of Bergen, Bergen, Norway. eystein.sverre.husebye@helse-bergen.no.; K.G. Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway. eystein.sverre.husebye@helse-bergen.no.; Department of Medicine, Haukeland University Hospital, Bergen, Norway. eystein.sverre.husebye@helse-bergen.no.

Publikováno v: Nature communications [Nat Commun] 2021 Feb 11; Vol. 12 (1), pp. 959. Date of Electronic Publication: 2021 Feb 11.