Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells

Autor: Chen, L, Ge, B, Casale, FP, Vasquez, L, Kwan, T, Garrido-Martín, D, Watt, S, Yan, Y, Kundu, K, Ecker, S, Datta, A, Richardson, D, Burden, F, Mead, D, Mann, AL, Fernandez, JM, Rowlston, S, Wilder, SP, Farrow, S, Shao, X, Lambourne, JJ, Redensek, A, Albers, CA, Amstislavskiy, V, Ashford, S, Berentsen, K, Bomba, L, Bourque, G, Bujold, D, Busche, S, Caron, M, Chen, S-H, Cheung, W, Delaneau, O, Dermitzakis, ET, Elding, H, Colgiu, I, Bagger, FO, Flicek, P, Habibi, E, Iotchkova, V, Janssen-Megens, E, Kim, B, Lehrach, H, Lowy, E, Mandoli, A, Matarese, F, Maurano, MT, Morris, JA, Pancaldi, V, Pourfarzad, F, Rehnstrom, K, Rendon, A, Risch, T, Sharifi, N, Simon, M-M, Sultan, M, Valencia, A, Walter, K, Wang, S-Y, Frontini, M, Antonarakis, SE, Clarke, L, Yaspo, M-L, Beck, S, Guigo, R, Rico, D, Martens, JHA, Ouwehand, WH, Kuijpers, TW, Paul, DS, Stunnenberg, HG, Stegle, O, Downes, K, Pastinen, T, Soranzo, N

Characterizing the multifaceted contribution of genetic and epigenetic factors to disease phenotypes is a major challenge in human genetics and medicine. We carried out high-resolution genetic, epigenetic, and transcriptomic profiling in three major

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f61f45f77b524757954a71cb8eab446a

An allelic-series rare-variant association test for candidate-gene discovery.

Autor: McCaw ZR; Insitro, South San Francisco, CA, USA. Electronic address: zmccaw@insitro.com., O'Dushlaine C; Insitro, South San Francisco, CA, USA., Somineni H; Insitro, South San Francisco, CA, USA., Bereket M; Insitro, South San Francisco, CA, USA., Klein C; Insitro, South San Francisco, CA, USA., Karaletsos T; Insitro, South San Francisco, CA, USA., Casale FP; Institute of AI for Health, Helmholtz Munich, Neuherberg, Germany; Helmholtz Pioneer Campus, Helmholtz Munich, Neuherberg, Germany; School of Computation, Information and Technology, Technical University of Munich, Munich, Germany., Koller D; Insitro, South San Francisco, CA, USA., Soare TW; Insitro, South San Francisco, CA, USA. Electronic address: tsoare@insitro.com.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2023 Aug 03; Vol. 110 (8), pp. 1330-1342. Date of Electronic Publication: 2023 Jul 25.

A linear mixed-model approach to study multivariate gene-environment interactions.

Autor: Moore R; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; University of Cambridge, Cambridge, UK., Casale FP; Microsoft Research New England, Cambridge, Massachusetts, USA., Jan Bonder M; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Horta D; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Franke L; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands., Barroso I; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK. ib1@sanger.ac.uk., Stegle O; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK. oliver.stegle@embl.de.; European Molecular Biology Laboratory, Genome Biology Unit, Heidelberg, Germany. oliver.stegle@embl.de.; Division of Computational Genomics and Systems Genetics, German Cancer Research Center (DKFZ), Heidelberg, Germany. oliver.stegle@embl.de.

Publikováno v: Nature genetics [Nat Genet] 2019 Jan; Vol. 51 (1), pp. 180-186. Date of Electronic Publication: 2018 Nov 26.

Interactions between genetic variation and cellular environment in skeletal muscle gene expression.

Autor: Taylor DL; National Human Genome Research Institute, National Institutes of Health, Bethesda, United States of America.; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, United Kingdom., Knowles DA; Department of Computer Science, Stanford University, Stanford, California, United States of America., Scott LJ; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, United States of America., Ramirez AH; Department of Medicine, Vanderbilt University Medical Center, Tennessee, United States of America., Casale FP; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, United Kingdom., Wolford BN; Department of Computational Medicine & Bioinformatics, University of Michigan, Ann Arbor, Michigan, United States of America., Guan L; Department of Computational Medicine & Bioinformatics, University of Michigan, Ann Arbor, Michigan, United States of America., Varshney A; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, United States of America., Albanus RD; Department of Computational Medicine & Bioinformatics, University of Michigan, Ann Arbor, Michigan, United States of America., Parker SCJ; Department of Computational Medicine & Bioinformatics, University of Michigan, Ann Arbor, Michigan, United States of America.; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, United States of America., Narisu N; National Human Genome Research Institute, National Institutes of Health, Bethesda, United States of America., Chines PS; National Human Genome Research Institute, National Institutes of Health, Bethesda, United States of America., Erdos MR; National Human Genome Research Institute, National Institutes of Health, Bethesda, United States of America., Welch RP; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, United States of America., Kinnunen L; Department of Public Health Solutions, National Institute for Health and Welfare, Helsinki, Finland., Saramies J; South Karelia Social and Health Care District, Lappeenranta, Finland., Sundvall J; Department of Public Health Solutions, National Institute for Health and Welfare, Helsinki, Finland., Lakka TA; Institute of Biomedicine/Physiology, University of Eastern Finland, Kuopio, Finland.; Kuopio Research Institute of Exercise Medicine, Kuopio, Finland.; Department of Clinical Physiology and Nuclear Medicine, Kuopio University Hospital, University of Eastern Finland, Kuopio, Finland., Laakso M; Department of Medicine, University of Eastern Finland, Kuopio, Finland.; Kuopio University Hospital, Kuopio, Finland., Tuomilehto J; Department of Public Health Solutions, National Institute for Health and Welfare, Helsinki, Finland.; Department of Neurosciences and Preventive Medicine, Danube University Krems, Krems, Austria.; Diabetes Research Group, King Abdulaziz University, Jeddah, Saudi Arabia.; Dasman Diabetes Institute, Dasman, Kuwait., Koistinen HA; Department of Public Health Solutions, National Institute for Health and Welfare, Helsinki, Finland.; Department of Medicine and Abdominal Center: Endocrinology, University of Helsinki and Helsinki University Central Hospital, Haartmaninkatu 4, Helsinki, Finland.; Minerva Foundation Institute for Medical Research, Biomedicum 2U, Tukholmankatu 8, Helsinki, Finland., Stegle O; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, United Kingdom., Boehnke M; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, United States of America., Birney E; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, United Kingdom., Collins FS; National Human Genome Research Institute, National Institutes of Health, Bethesda, United States of America.

Publikováno v: PloS one [PLoS One] 2018 Apr 16; Vol. 13 (4), pp. e0195788. Date of Electronic Publication: 2018 Apr 16 (Print Publication: 2018).

Common genetic variation drives molecular heterogeneity in human iPSCs.

Autor: Kilpinen H; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK., Goncalves A; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Leha A; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Afzal V; Centre for Gene Regulation &Expression, School of Life Sciences, University of Dundee, Dundee, DD1 5EH, UK., Alasoo K; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Ashford S; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0XY, UK., Bala S; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Bensaddek D; Centre for Gene Regulation &Expression, School of Life Sciences, University of Dundee, Dundee, DD1 5EH, UK., Casale FP; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK., Culley OJ; Centre for Stem Cells &Regenerative Medicine, King's College London, Tower Wing, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK., Danecek P; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Faulconbridge A; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK., Harrison PW; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK., Kathuria A; Centre for Stem Cells &Regenerative Medicine, King's College London, Tower Wing, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK., McCarthy D; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK.; St Vincent's Institute of Medical Research, 41 Victoria Parade, Fitzroy, Victoria 3065, Australia., McCarthy SA; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Meleckyte R; Centre for Stem Cells &Regenerative Medicine, King's College London, Tower Wing, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK., Memari Y; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Moens N; Centre for Stem Cells &Regenerative Medicine, King's College London, Tower Wing, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK., Soares F; Wellcome Trust and MRC Cambridge Stem Cell Institute and Biomedical Research Centre, Anne McLaren Laboratory, Department of Surgery, University of Cambridge, Cambridge CB2 0SZ, UK., Mann A; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Streeter I; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK., Agu CA; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Alderton A; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Nelson R; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Harper S; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Patel M; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., White A; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Patel SR; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Clarke L; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK., Halai R; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Kirton CM; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Kolb-Kokocinski A; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Beales P; UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK., Birney E; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK., Danovi D; Centre for Stem Cells &Regenerative Medicine, King's College London, Tower Wing, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK., Lamond AI; Centre for Gene Regulation &Expression, School of Life Sciences, University of Dundee, Dundee, DD1 5EH, UK., Ouwehand WH; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0XY, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK., Vallier L; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Wellcome Trust and MRC Cambridge Stem Cell Institute and Biomedical Research Centre, Anne McLaren Laboratory, Department of Surgery, University of Cambridge, Cambridge CB2 0SZ, UK., Watt FM; Centre for Stem Cells &Regenerative Medicine, King's College London, Tower Wing, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK., Durbin R; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Stegle O; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK., Gaffney DJ; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

Publikováno v: Nature [Nature] 2017 Jun 15; Vol. 546 (7658), pp. 370-375. Date of Electronic Publication: 2017 May 10.