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Results: 141
Fine-mapping inflammatory bowel disease loci to single-variant resolution.
Hailiang Huang, Ming Fang, Luke Jostins, Maša Umićević Mirkov, Gabrielle Boucher, Carl A Anderson, Vibeke Andersen, Isabelle Cleynen, Adrian Cortes, François Crins, Mauro D'Amato, Valérie Deffontaine, Julia Dmitrieva, Elisa Docampo, Mahmoud Elansary, Kyle Kai-How Farh, Andre Franke, Ann-Stephan Gori, Philippe Goyette, Jonas Halfvarson, Talin Haritunians, Jo Knight, Ian C Lawrance, Charlie W Lees, Edouard Louis, Rob Mariman, Theo Meuwissen, Myriam Mni, Yukihide Momozawa, Miles Parkes, Sarah L Spain, Emilie Théâtre, Gosia Trynka, Jack Satsangi, Suzanne van Sommeren, Severine Vermeire, Ramnik J Xavier, International Inflammatory Bowel Disease Genetics Consortium, Rinse K Weersma, Richard H Duerr, Christopher G Mathew, John D Rioux, Dermot PB McGovern, Judy H Cho, Michel Georges, Mark J Daly, Jeffrey C Barrett
Mar 19, 2019
Inflammatory bowel diseases are chronic gastrointestinal inflammatory disorders that affect millions of people worldwide. Genome-wide association studies have identified 200 inflammatory bowel disease-associated loci, but few...
Adolescent Adult Aged Aged 80 and over Binding Sites Chromatin Colitis Ulcerative Crohn Disease Epigenesis Genetic Female Genetic Predisposition to Disease genetic variation Genome-Wide Association Study Genotype Humans Inflammatory Bowel Diseases Linkage Disequilibrium Male Middle Aged Quantitative Trait Loci Smad3 Protein Transcription Factors Young Adult
Tensorial blind source separation for improved analysis of multi-omic data.
There is an increased need for integrative analyses of multi-omic data. We present and benchmark a novel tensorial independent component analysis (tICA) algorithm against current state-of-the-art methods. We find that tICA...
Cancer dimensional reduction Epigenome-wide association study Independent Component Analysis Multi-omic Tensor mQTL Algorithms DNA Copy Number Variations DNA Methylation Epigenesis Genetic Epigenomics Gene Expression Regulation Neoplastic Genetic Markers Genome-Wide Association Study Humans Neoplasms Quantitative Trait Loci
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.
Adriana I Iglesias, Aniket Mishra, Veronique Vitart, Yelena Bykhovskaya, René Höhn, Henriët Springelkamp, Gabriel Cuellar-Partida, Puya Gharahkhani, Jessica N Cooke Bailey, Colin E Willoughby, Xiaohui Li, Seyhan Yazar, Abhishek Nag, Anthony P Khawaja, Ozren Polašek, David Siscovick, Paul Mitchell, Yih Chung Tham, Jonathan L Haines, Lisa S Kearns, Caroline Hayward, Yuan Shi, Elisabeth M van Leeuwen, Kent D Taylor, Blue Mountains Eye Study—GWAS group, Pieter Bonnemaijer, Jerome I Rotter, Nicholas G Martin, Tanja Zeller, Richard A Mills, Emmanuelle Souzeau, Sandra E Staffieri, Jost B Jonas, Irene Schmidtmann, Thibaud Boutin, Jae H Kang, Sionne EM Lucas, Tien Yin Wong, Manfred E Beutel, James F Wilson, NEIGHBORHOOD Consortium, Wellcome Trust Case Control Consortium 2 (WTCCC2), André G Uitterlinden, Eranga N Vithana, Paul J Foster, Pirro G Hysi, Alex W Hewitt, Chiea Chuen Khor, Louis R Pasquale, Grant W Montgomery, Caroline CW Klaver, Tin Aung, Norbert Pfeiffer, David A Mackey, Christopher J Hammond, Ching-Yu Cheng, Jamie E Craig, Yaron S Rabinowitz, Janey L Wiggs, Kathryn P Burdon, Cornelia M van Duijn, Stuart MacGregor
Sep 05, 2018
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In...
ADAMTS Proteins Asian People Cornea Corneal Diseases Corneal Dystrophies Hereditary Decorin Ehlers-Danlos Syndrome Eye Diseases Hereditary Fibrillin-1 Gene Expression Genome Human Genome-Wide Association Study Glaucoma Open-Angle Humans Keratoconus Loeys-Dietz Syndrome Lumican Marfan Syndrome Mendelian Randomization Analysis Myopia Polymorphism Single Nucleotide Proteoglycans Quantitative Trait Loci Quantitative Trait Heritable Transforming Growth Factor beta2 White People
Common genetic variation drives molecular heterogeneity in human iPSCs.
Helena Kilpinen, Angela Goncalves, Andreas Leha, Vackar Afzal, Kaur Alasoo, Sofie Ashford, Sendu Bala, Dalila Bensaddek, Francesco Paolo Casale, Oliver J Culley, Petr Danecek, Adam Faulconbridge, Peter W Harrison, Annie Kathuria, Davis McCarthy, Shane A McCarthy, Ruta Meleckyte, Yasin Memari, Nathalie Moens, Filipa Soares, Alice Mann, Ian Streeter, Chukwuma A Agu, Alex Alderton, Rachel Nelson, Sarah Harper, Minal Patel, Alistair White, Sharad R Patel, Laura Clarke, Reena Halai, Christopher M Kirton, Anja Kolb-Kokocinski, Philip Beales, Ewan Birney, Davide Danovi, Angus I Lamond, Willem H Ouwehand, Ludovic Vallier, Fiona M Watt, Richard Durbin, Oliver Stegle, Daniel J Gaffney
Nov 20, 2018
Technology utilizing human induced pluripotent stem cells (iPS cells) has enormous potential to provide improved cellular models of human disease. However, variable genetic and phenotypic characterization of many existing iPS...
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer.
Manuel A Ferreira, Eric R Gamazon, Fares Al-Ejeh, Kristiina Aittomäki, Irene L Andrulis, Hoda Anton-Culver, Adalgeir Arason, Volker Arndt, Kristan J Aronson, Banu K Arun, Ella Asseryanis, Jacopo Azzollini, Judith Balmaña, Daniel R Barnes, Daniel Barrowdale, Matthias W Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Katarzyna Białkowska, Carl Blomqvist, Natalia V Bogdanova, Stig E Bojesen, Manjeet K Bolla, Ake Borg, Hiltrud Brauch, Hermann Brenner, Annegien Broeks, Barbara Burwinkel, Trinidad Caldés, Maria A Caligo, Daniele Campa, Ian Campbell, Federico Canzian, Jonathan Carter, Brian D Carter, Jose E Castelao, Jenny Chang-Claude, Stephen J Chanock, Hans Christiansen, Wendy K Chung, Kathleen BM Claes, Christine L Clarke, EMBRACE Collaborators, GC-HBOC Study Collaborators, GEMO Study Collaborators, Fergus J Couch, Angela Cox, Simon S Cross, Kamila Czene, Mary B Daly, Miguel de la Hoya, Joe Dennis, Peter Devilee, Orland Diez, Thilo Dörk, Alison M Dunning, Miriam Dwek, Diana M Eccles, Bent Ejlertsen, Carolina Ellberg, Christoph Engel, Mikael Eriksson, Peter A Fasching, Olivia Fletcher, Henrik Flyger, Eitan Friedman, Debra Frost, Marike Gabrielson, Manuela Gago-Dominguez, Patricia A Ganz, Susan M Gapstur, Judy Garber, Montserrat García-Closas, José A García-Sáenz, Mia M Gaudet, Graham G Giles, Gord Glendon, Andrew K Godwin, Mark S Goldberg, David E Goldgar, Anna González-Neira, Mark H Greene, Jacek Gronwald, Pascal Guénel, Christopher A Haiman, Per Hall, Ute Hamann, Wei He, Jane Heyworth, Frans BL Hogervorst, Antoinette Hollestelle, Robert N Hoover, John L Hopper, Peter J Hulick, Keith Humphreys, Evgeny N Imyanitov, ABCTB Investigators, HEBON Investigators, BCFR Investigators, Claudine Isaacs, Milena Jakimovska, Anna Jakubowska, Paul A James, Ramunas Janavicius, Rachel C Jankowitz, Esther M John, Nichola Johnson, Vijai Joseph, Beth Y Karlan, Elza Khusnutdinova, Johanna I Kiiski, Yon-Dschun Ko, Michael E Jones, Irene Konstantopoulou, Vessela N Kristensen, Yael Laitman, Diether Lambrechts, Conxi Lazaro, Goska Leslie, Jenny Lester, Fabienne Lesueur, Sara Lindström, Jirong Long, Jennifer T Loud, Jan Lubiński, Enes Makalic, Arto Mannermaa, Mehdi Manoochehri, Sara Margolin, Tabea Maurer, Dimitrios Mavroudis, Lesley McGuffog, Alfons Meindl, Usha Menon, Kyriaki Michailidou, Austin Miller, Marco Montagna, Fernando Moreno, Lidia Moserle, Anna Marie Mulligan, Katherine L Nathanson, Susan L Neuhausen, Heli Nevanlinna, Ines Nevelsteen, Finn C Nielsen, Liene Nikitina-Zake, Robert L Nussbaum, Kenneth Offit, Edith Olah, Olufunmilayo I Olopade, Håkan Olsson, Ana Osorio, Janos Papp, Tjoung-Won Park-Simon, Michael T Parsons, Inge Sokilde Pedersen, Ana Peixoto, Paolo Peterlongo, Paul DP Pharoah, Dijana Plaseska-Karanfilska, Bruce Poppe, Nadege Presneau, Paolo Radice, Johanna Rantala, Gad Rennert, Harvey A Risch, Emmanouil Saloustros, Kristin Sanden, Elinor J Sawyer, Marjanka K Schmidt, Rita K Schmutzler, Priyanka Sharma, Xiao-Ou Shu, Jacques Simard, Christian F Singer, Penny Soucy, Melissa C Southey, John J Spinelli, Amanda B Spurdle, Jennifer Stone, Anthony J Swerdlow, William J Tapper, Jack A Taylor, Manuel R Teixeira, Mary Beth Terry, Alex Teulé, Mads Thomassen, Kathrin Thöne, Darcy L Thull, Marc Tischkowitz, Amanda E Toland, Diana Torres, Thérèse Truong, Nadine Tung, Celine M Vachon, Christi J van Asperen, Ans Mw van den Ouweland, Elizabeth J van Rensburg, Ana Vega, Alessandra Viel, Qin Wang, Barbara Wappenschmidt, Jeffrey N Weitzel, Camilla Wendt, Robert Winqvist, Xiaohong R Yang, Drakoulis Yannoukakos, Argyrios Ziogas, Peter Kraft, Antonis C Antoniou, Wei Zheng, Douglas F Easton, Roger L Milne, Jonathan Beesley, Georgia Chenevix-Trench
Jan 29, 2019
Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and...
Resolving $\textit{TYK2}$ locus genotype-to-phenotype differences in autoimmunity
CA Dendrou, A Cortes, L Shipman, HG Evans, KE Attfield, L Jostins, T Barber, G Kaur, SB Kuttikkatte, OA Leach, C Desel, SL Faergeman, J Cheeseman, MJ Neville, S Sawcer, A Compston, AR Johnson, C Everett, JI Bell, F Karpe, M Ultsch, C Eigenbrot, G McVean, L Fugger
Feb 23, 2017
Animals Autoimmune Diseases Autoimmunity CD4-Positive T-Lymphocytes Cytokines Epigenesis Genetic Female Genetic Association Studies genetic variation Genomics Genotype HEK293 Cells Homozygote Humans Immune System Janus Kinase 2 Leukocytes Mononuclear Male Mice Mutation Missense Phenotype Polymorphism Single Nucleotide Protein Conformation Quantitative Trait Loci Recombination Genetic Sequence Analysis RNA Signal Transduction TYK2 Kinase Transcriptome
Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits
AE Justice, TW Winkler, MF Feitosa, M Graff, VA Fisher, K Young, L Barata, X Deng, J Czajkowski, D Hadley, JS Ngwa, TS Ahluwalia, AY Chu, NL Heard-Costa, E Lim, J Perez, JD Eicher, Z Kutalik, L Xue, A Mahajan, F Renström, J Wu, Q Qi, S Ahmad, T Alfred, N Amin, LF Bielak, A Bonnefond, J Bragg, G Cadby, M Chittani, S Coggeshall, T Corre, N Direk, J Eriksson, K Fischer, M Gorski, M Neergaard Harder, M Horikoshi, T Huang, JE Huffman, AU Jackson, JM Justesen, S Kanoni, L Kinnunen, ME Kleber, P Komulainen, M Kumari, U Lim, J Luan, L-P Lyytikäinen, M Mangino, A Manichaikul, J Marten, RPS Middelberg, M Müller-Nurasyid, P Navarro, L Pérusse, N Pervjakova, C Sarti, AV Smith, JA Smith, A Stančáková, RJ Strawbridge, HM Stringham, YJ Sung, T Tanaka, A Teumer, S Trompet, SW van der Laan, PJ van der Most, JV Van Vliet-Ostaptchouk, SL Vedantam, N Verweij, JM Vink, V Vitart, Y Wu, L Yengo, W Zhang, J Hua Zhao, ME Zimmermann, N Zubair, GR Abecasis, LS Adair, S Afaq, U Afzal, SJL Bakker, TM Bartz, J Beilby, RN Bergman, S Bergmann, R Biffar, J Blangero, E Boerwinkle, LL Bonnycastle, E Bottinger, D Braga, BM Buckley, S Buyske, H Campbell, JC Chambers, FS Collins, JE Curran, GJ de Borst, AJM de Craen, EJC de Geus, G Dedoussis, GE Delgado, HM den Ruijter, G Eiriksdottir, AL Eriksson, T Esko, JD Faul, I Ford, T Forrester, K Gertow, B Gigante, N Glorioso, J Gong, H Grallert, TB Grammer, N Grarup, S Haitjema, G Hallmans, A Hamsten, T Hansen, TB Harris, CA Hartman, M Hassinen, ND Hastie, AC Heath, D Hernandez, L Hindorff, LJ Hocking, M Hollensted, OL Holmen, G Homuth, J Jan Hottenga, J Huang, J Hung, N Hutri-Kähönen, E Ingelsson, AL James, J-O Jansson, M-R Jarvelin, MA Jhun, ME Jørgensen, M Juonala, M Kähönen, M Karlsson, HA Koistinen, I Kolcic, G Kolovou, C Kooperberg, BK Krämer, J Kuusisto, K Kvaløy, TA Lakka, C Langenberg, LJ Launer, K Leander, NR Lee, L Lind, CM Lindgren, A Linneberg, S Lobbens, M Loh, M Lorentzon, R Luben, G Lubke, A Ludolph-Donislawski, S Lupoli, PAF Madden, R Männikkö, P Marques-Vidal, NG Martin, CA McKenzie, B McKnight, D Mellström, C Menni, GW Montgomery, AB Musk, N Narisu, M Nauck, IM Nolte, AJ Oldehinkel, M Olden, KK Ong, S Padmanabhan, PA Peyser, C Pisinger, DJ Porteous, OT Raitakari, T Rankinen, DC Rao, LJ Rasmussen-Torvik, R Rawal, T Rice, PM Ridker, LM Rose, SA Bien, I Rudan, S Sanna, MA Sarzynski, N Sattar, K Savonen, D Schlessinger, S Scholtens, C Schurmann, RA Scott, B Sennblad, MA Siemelink, G Silbernagel, PE Slagboom, H Snieder, JA Staessen, DJ Stott, MA Swertz, AJ Swift, KD Taylor, BO Tayo, B Thorand, D Thuillier, J Tuomilehto, AG Uitterlinden, L Vandenput, M-C Vohl, H Völzke, JM Vonk, G Waeber, M Waldenberger, RGJ Westendorp, S Wild, G Willemsen, BHR Wolffenbuttel, A Wong, AF Wright, W Zhao, MC Zillikens, D Baldassarre, B Balkau, S Bandinelli, CA Böger, DI Boomsma, C Bouchard, M Bruinenberg, DI Chasman, Y-D Chen, PS Chines, RS Cooper, F Cucca, D Cusi, UD Faire, L Ferrucci, PW Franks, P Froguel, P Gordon-Larsen, H-J Grabe, V Gudnason, CA Haiman, C Hayward, K Hveem, AD Johnson, J Wouter Jukema, SLR Kardia, M Kivimaki, JS Kooner, D Kuh, M Laakso, T Lehtimäki, LL Marchand, W März, MI McCarthy, A Metspalu, AP Morris, C Ohlsson, LJ Palmer, G Pasterkamp, O Pedersen, A Peters, U Peters, O Polasek, BM Psaty, L Qi, R Rauramaa, BH Smith, TIA Sørensen, K Strauch, H Tiemeier, E Tremoli, P van der Harst, H Vestergaard, P Vollenweider, NJ Wareham, DR Weir, JB Whitfield, JF Wilson, J Tyrrell, TM Frayling, I Barroso, M Boehnke, P Deloukas, CS Fox, JN Hirschhorn, DJ Hunter, TD Spector, DP Strachan, CM van Duijn, IM Heid, KL Mohlke, J Marchini, RJF Loos, TO Kilpeläinen, C-T Liu, IB Borecki, KE North, LA Cupples
Jun 27, 2017
Quantitative genetic analysis deciphers the impact of cis and trans regulation on cell-to-cell variability in protein expression levels.
Michael D Morgan, Etienne Patin, Bernd Jagla, Milena Hasan, Lluís Quintana-Murci, John C Marioni
Mar 12, 2020
XGAP
Morris A Swertz, K Joeri van der Velde, Bruno M Tesson, Richard A Scheltema, Danny Arends, Gonzalo Vera, Rudi Alberts, Martijn Dijkstra, Paul Schofield, Klaus Schughart, John M Hancock, Damian Smedley, Katy Wolstencroft, Carole Goble, Engbert O de Brock, Andrew R Jones, Helen E Parkinson, Coordination of Mouse Informatics Resources (CASIMIR), Genotype-To-Phenotype (GEN2PHEN) Consortiums, Ritsert C Jansen
Jun 17, 2011
Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation.
Maya Ghoussaini, Juliet D French, Kyriaki Michailidou, Silje Nord, Jonathan Beesley, Sander Canisus, Kristine M Hillman, Susanne Kaufmann, Haran Sivakumaran, Mahdi Moradi Marjaneh, Jason S Lee, Joe Dennis, Manjeet K Bolla, Qin Wang, Ed Dicks, Roger L Milne, John L Hopper, Melissa C Southey, Marjanka K Schmidt, Annegien Broeks, Kenneth Muir, Artitaya Lophatananon, Peter A Fasching, Matthias W Beckmann, Olivia Fletcher, Nichola Johnson, Elinor J Sawyer, Ian Tomlinson, Barbara Burwinkel, Frederik Marme, Pascal Guénel, Thérèse Truong, Stig E Bojesen, Henrik Flyger, Javier Benitez, Anna González-Neira, M Rosario Alonso, Guillermo Pita, Susan L Neuhausen, Hoda Anton-Culver, Hermann Brenner, Volker Arndt, Alfons Meindl, Rita K Schmutzler, Hiltrud Brauch, Ute Hamann, Daniel C Tessier, Daniel Vincent, Heli Nevanlinna, Sofia Khan, Keitaro Matsuo, Hidemi Ito, Thilo Dörk, Natalia V Bogdanova, Annika Lindblom, Sara Margolin, Arto Mannermaa, Veli-Matti Kosma, kConFab/AOCS Investigators, Anna H Wu, David Van Den Berg, Diether Lambrechts, Giuseppe Floris, Jenny Chang-Claude, Anja Rudolph, Paolo Radice, Monica Barile, Fergus J Couch, Emily Hallberg, Graham G Giles, Christopher A Haiman, Loic Le Marchand, Mark S Goldberg, Soo H Teo, Cheng Har Yip, Anne-Lise Borresen-Dale, NBCS Collaborators, Wei Zheng, Qiuyin Cai, Robert Winqvist, Katri Pylkäs, Irene L Andrulis, Peter Devilee, Rob AEM Tollenaar, Montserrat García-Closas, Jonine Figueroa, Per Hall, Kamila Czene, Judith S Brand, Hatef Darabi, Mikael Eriksson, Maartje J Hooning, Linetta B Koppert, Jingmei Li, Xiao-Ou Shu, Ying Zheng, Angela Cox, Simon S Cross, Mitul Shah, Valerie Rhenius, Ji-Yeob Choi, Daehee Kang, Mikael Hartman, Kee Seng Chia, Maria Kabisch, Diana Torres, Craig Luccarini, Don M Conroy, Anna Jakubowska, Jan Lubinski, Suleeporn Sangrajrang, Paul Brennan, Curtis Olswold, Susan Slager, Chen-Yang Shen, Ming-Feng Hou, Anthony Swerdlow, Minouk J Schoemaker, Jacques Simard, Paul DP Pharoah, Vessela Kristensen, Georgia Chenevix-Trench, Douglas F Easton, Alison M Dunning, Stacey L Edwards
Sep 07, 2016
Alleles Breast Neoplasms Case-Control Studies Cell Line Tumor Chromosomes Human Pair 5 Enhancer Elements Genetic Fibroblast Growth Factor 10 Genetic Predisposition to Disease Haplotypes Humans Polymorphism Single Nucleotide Promoter Regions Genetic Quantitative Trait Loci Receptor Fibroblast Growth Factor Type 2 Receptors Estrogen
Testing the role of predicted gene knockouts in human anthropometric trait variation.
Samuel Lessard, Alisa K Manning, Cécile Low-Kam, Paul L Auer, Ayush Giri, Mariaelisa Graff, Claudia Schurmann, Hanieh Yaghootkar, Jian'an Luan, Tonu Esko, Tugce Karaderi, NHLBI GO Exome Sequence Project, GOT2D, T2D-GENES, GIANT Consortium, Erwin P Bottinger, Yingchang Lu, Chris Carlson, Mark Caulfield, Marie-Pierre Dubé, Rebecca D Jackson, Charles Kooperberg, Barbara McKnight, Ian Mongrain, Ulrike Peters, Alex P Reiner, David Rhainds, Nona Sotoodehnia, Joel N Hirschhorn, Robert A Scott, Patricia B Munroe, Timothy M Frayling, Ruth JF Loos, Kari E North, Todd L Edwards, Jean-Claude Tardif, Cecilia M Lindgren, Guillaume Lettre
Mar 14, 2016
Expression Quantitative Trait Locus Mapping in Pulmonary Arterial Hypertension.
Anna Ulrich, Pablo Otero-Núñez, John Wharton, Emilia M Swietlik, Stefan Gräf, Nicholas W Morrell, Dennis Wang, Allan Lawrie, Martin R Wilkins, Inga Prokopenko, Christopher J Rhodes, On Behalf Of The Nihr BioResource-Rare Diseases Consortium, UK PAH Cohort Study Consortium
Jan 08, 2021
Expression quantitative trait loci (eQTL) can provide a link between disease susceptibility variants discovered by genetic association studies and biology. To date, eQTL mapping studies have been primarily conducted in healthy...
Blood eQTL expression quantitative trait locus Genetics pulmonary arterial hypertension Base Sequence Familial Primary Pulmonary Hypertension Female Genetic Association Studies Genetic Predisposition to Disease Genome Genome-Wide Association Study Humans Male Polymorphism Single Nucleotide pulmonary arterial hypertension Quantitative Trait Loci Sequence Analysis RNA Transcriptome
Whole-genome sequencing analysis of the cardiometabolic proteome.
Arthur Gilly, Young-Chan Park, Grace Png, Andrei Barysenka, Iris Fischer, Thea Bjørnland, Lorraine Southam, Daniel Suveges, Sonja Neumeyer, N William Rayner, Emmanouil Tsafantakis, Maria Karaleftheri, George Dedoussis, Eleftheria Zeggini
Dec 10, 2020
The human proteome is a crucial intermediate between complex diseases and their genetic and environmental components, and an important source of drug development targets and biomarkers. Here, we comprehensively assess the...
A map of transcriptional heterogeneity and regulatory variation in human microglia.
Adam MH Young, Natsuhiko Kumasaka, Fiona Calvert, Timothy R Hammond, Andrew Knights, Nikolaos Panousis, Jun Sung Park, Jeremy Schwartzentruber, Jimmy Liu, Kousik Kundu, Michael Segel, Natalia A Murphy, Christopher E McMurran, Harry Bulstrode, Jason Correia, Karol P Budohoski, Alexis Joannides, Mathew R Guilfoyle, Rikin Trivedi, Ramez Kirollos, Robert Morris, Matthew R Garnett, Ivan Timofeev, Ibrahim Jalloh, Katherine Holland, Richard Mannion, Richard Mair, Colin Watts, Stephen J Price, Peter J Kirkpatrick, Thomas Santarius, Edward Mountjoy, Maya Ghoussaini, Nicole Soranzo, Omer A Bayraktar, Beth Stevens, Peter J Hutchinson, Robin Jm Franklin, Daniel J Gaffney
Dec 15, 2020
Genetic and transcriptional dissection of resistance to Claviceps purpurea in the durum wheat cultivar Greenshank.
Anna Gordon, Curt McCartney, Ron E Knox, Nelzo Ereful, Colin W Hiebert, David J Konkin, Ya-Chih Hsueh, Vijai Bhadauria, Mara Sgroi, Donal M O'Sullivan, Caroline Hadley, Lesley A Boyd, Jim G Menzies
Feb 13, 2021
Synergistic insights into human health from aptamer- and antibody-based proteomic profiling.
Maik Pietzner, Eleanor Wheeler, Julia Carrasco-Zanini, Nicola D Kerrison, Erin Oerton, Mine Koprulu, Jian'an Luan, Aroon D Hingorani, Steve A Williams, Nicholas J Wareham, Claudia Langenberg
Jan 07, 2022
Network regression analysis in transcriptome-wide association studies.
BACKGROUND: Transcriptome-wide association studies (TWASs) have shown great promise in interpreting the findings from genome-wide association studies (GWASs) and exploring the disease mechanisms, by integrating GWAS and eQTL...
Across-cohort QC analyses of GWAS summary statistics from complex traits.
Guo-Bo Chen, Sang Hong Lee, Matthew R Robinson, Maciej Trzaskowski, Zhi-Xiang Zhu, Thomas W Winkler, Felix R Day, Damien C Croteau-Chonka, Andrew R Wood, Adam E Locke, Zoltán Kutalik, Ruth JF Loos, Timothy M Frayling, Joel N Hirschhorn, Jian Yang, Naomi R Wray, Genetic Investigation of Anthropometric Traits (GIANT) Consortium, Peter M Visscher
Sep 05, 2018
Genome-wide association studies (GWASs) have been successful in discovering SNP trait associations for many quantitative traits and common diseases. Typically, the effect sizes of SNP alleles are very small and this requires...
Joint modelling of confounding factors and prominent genetic regulators provides increased accuracy in genetical genomics studies.
Expression quantitative trait loci (eQTL) studies are an integral tool to investigate the genetic component of gene expression variation. A major challenge in the analysis of such studies are hidden confounding factors, such as...
Expert curation of the human and mouse olfactory receptor gene repertoires identifies conserved coding regions split across two exons.
If HA Barnes, Ximena Ibarra-Soria, Stephen Fitzgerald, Jose M Gonzalez, Claire Davidson, Matthew P Hardy, Deepa Manthravadi, Laura Van Gerven, Mark Jorissen, Zhen Zeng, Mona Khan, Peter Mombaerts, Jennifer Harrow, Darren W Logan, Adam Frankish
Mar 03, 2021
BACKGROUND: Olfactory receptor (OR) genes are the largest multi-gene family in the mammalian genome, with 874 in human and 1483 loci in mouse (including pseudogenes). The expansion of the OR gene repertoire has occurred through...
Wheat genetic loci conferring resistance to stripe rust in the face of genetically diverse races of the fungus Puccinia striiformis f. sp. tritici.
Laura Bouvet, Lawrence Percival-Alwyn, Simon Berry, Paul Fenwick, Camila Campos Mantello, Rajiv Sharma, Sarah Holdgate, Ian J Mackay, James Cockram
Jan 10, 2022
Polygenic basis and biomedical consequences of telomere length variation.
Veryan Codd, Qingning Wang, Elias Allara, Crispin Musicha, Stephen Kaptoge, Svetlana Stoma, Tao Jiang, Stephen E Hamby, Peter S Braund, Vasiliki Bountziouka, Charley A Budgeon, Matthew Denniff, Chloe Swinfield, Manolo Papakonstantinou, Shilpi Sheth, Dominika E Nanus, Sophie C Warner, Minxian Wang, Amit V Khera, James Eales, Willem H Ouwehand, John R Thompson, Emanuele Di Angelantonio, Angela M Wood, Adam S Butterworth, John N Danesh, Christopher P Nelson, Nilesh J Samani
Nov 05, 2021
Telomeres, the end fragments of chromosomes, play key roles in cellular proliferation and senescence. Here we characterize the genetic architecture of naturally occurring variation in leukocyte telomere length (LTL) and identify...
Integration of disease association and eQTL data using a Bayesian colocalisation approach highlights six candidate causal genes in immune-mediated diseases.
Regulators of genetic risk of breast cancer identified by integrative network analysis.
Mauro AA Castro, Ines de Santiago, Thomas M Campbell, Courtney Vaughn, Theresa E Hickey, Edith Ross, Wayne D Tilley, Florian Markowetz, Bruce AJ Ponder, Kerstin B Meyer
Nov 11, 2015
Breast Neoplasms Cell Line Tumor Chromatin Immunoprecipitation Cluster Analysis Estrogen Receptor alpha Female Fibroblast Growth Factor 10 Gene Expression Profiling Gene Regulatory Networks Genetic Predisposition to Disease Genome-Wide Association Study Humans Mutation Quantitative Trait Loci Reproducibility of Results Transcription Factors
Evaluation of associations between genetically predicted circulating protein biomarkers and breast cancer risk.
Xiang Shu, Jiandong Bao, Lang Wu, Jirong Long, Xiao-Ou Shu, Xingyi Guo, Yaohua Yang, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, Irene L Andrulis, Jose E Castelao, Thilo Dörk, Manuela Gago-Dominguez, Montserrat García-Closas, Graham G Giles, Artitaya Lophatananon, Kenneth Muir, Håkan Olsson, Gadi Rennert, Emmanouil Saloustros, Rodney J Scott, Melissa C Southey, Paul DP Pharoah, Roger L Milne, Peter Kraft, Jacques Simard, Douglas F Easton, Wei Zheng
Jun 19, 2019
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