Loukas Moutsianas

ORCID: 0000-0001-5453-345X
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Research Areas
  • Genetic Associations and Epidemiology
  • Genomics and Rare Diseases
  • Cancer Genomics and Diagnostics
  • Genomic variations and chromosomal abnormalities
  • Inflammatory Bowel Disease
  • Genetic factors in colorectal cancer
  • Immunodeficiency and Autoimmune Disorders
  • SARS-CoV-2 and COVID-19 Research
  • Genetic Neurodegenerative Diseases
  • Mitochondrial Function and Pathology
  • interferon and immune responses
  • RNA modifications and cancer
  • Genetics and Neurodevelopmental Disorders
  • Liver Disease Diagnosis and Treatment
  • Bioinformatics and Genomic Networks
  • T-cell and B-cell Immunology
  • RNA Research and Splicing
  • RNA and protein synthesis mechanisms
  • Epigenetics and DNA Methylation
  • Chronic Lymphocytic Leukemia Research
  • Diabetes and associated disorders
  • RNA regulation and disease
  • Helicobacter pylori-related gastroenterology studies
  • Genetic and Kidney Cyst Diseases
  • Pancreatic function and diabetes

William Harvey Research Institute
2020-2025

Queen Mary University of London
2020-2025

Genomics England
2020-2025

University of Leeds
2025

Wellcome Sanger Institute
2016-2024

Broad Institute
2024

Boston Children's Hospital
2024

Stanford University
2023

University College London
2022-2023

Hospital for Sick Children
2022-2023

10.1038/nature09298 article EN Nature 2010-08-31
Stephen Sawcer Garrett Hellenthal Matti Pirinen Chris C. A. Spencer Nikolaos A. Patsopoulos and 95 more Loukas Moutsianas Alexander Dilthey Zhan Su Colin Freeman Sarah Hunt Sarah Edkins Emma Gray David R. Booth Simon Potter An Goris Gavin Band Annette Oturai Amy Strange Janna Saarela Céline Bellenguez Bertrand Fontaine Matthew Gillman Bernhard Hemmer Rhian Gwilliam Frauke Zipp Alagurevathi Jayakumar Roland Martinꝉ Stephen Leslie Stanley Hawkins Eleni Giannoulatou Sandra D’Alfonso Hannah Blackburn Filippo Martinelli Boneschi Jennifer Liddle Hanne F. Harbo M. L. Perez Anne Spurkland Matthew Waller Marcin P. Mycko Michelle Ricketts Manuel Comabella Naomi Hammond Ingrid Kockum Owen T McCann Maria Ban Pamela Whittaker Anu Kemppinen Paul A. Weston Clive Hawkins Sara Widaa John Zajicek Serge Dronov Neil P. Robertson Suzannah J. Bumpstead Lisa F. Barcellos Rathi Ravindrarajah Roby Abraham Lars Alfredsson Kristin Ardlie Cristin Aubin Amie Baker K. Baker Sergio E. Baranzini Laura Bergamaschi Roberto Bergamaschi Allan Bernstein Achim Berthele Mike Boggild Jonathan P. Bradfield David Brassat Simon Broadley Dorothea Buck Helmut Butzkueven Ruggero Capra William M. Carroll Paola Cavalla Elisabeth Gulowsen Celius Sabine Cepok Rosetta Chiavacci Françoise Clerget‐Darpoux Katleen Clysters Gıancarlo Comı M. Cossburn Isabelle Cournu‐Rebeix Mathew Cox Wendy Cozen Bruce Cree Anne H. Cross Daniele Cusi Mark J. Daly Emma Davis Paul I. W. de Bakker Marc Debouverie Marie D’hooghe Katherine Dixon Rita Dobosi Bénédicte Dubois David Ellinghaus Irina Elovaara Federica Esposito

10.1038/nature10251 article EN Nature 2011-08-01

Host-mediated lung inflammation is present1, and drives mortality2, in the critical illness caused by coronavirus disease 2019 (COVID-19). Host genetic variants associated with may identify mechanistic targets for therapeutic development3. Here we report results of GenOMICC (Genetics Of Mortality In Critical Care) genome-wide association study 2,244 critically ill patients COVID-19 from 208 UK intensive care units. We have identified replicated following new significant associations: on...

10.1038/s41586-020-03065-y article EN other-oa Nature 2020-12-11
Christian Fuchsberger Jason Flannick Tanya M. Teslovich Anubha Mahajan Vineeta Agarwala and 95 more Kyle J. Gaulton Clement Ma Pierre Fontanillas Loukas Moutsianas Davis J. McCarthy Manuel A. Rivas John R. B. Perry Xueling Sim Thomas W. Blackwell Neil R. Robertson Nigel W. Rayner Pablo Cingolani Adam E. Locke Juan Fernández Tajes Heather M. Highland Josée Dupuis Peter S. Chines Cecilia M. Lindgren Christopher Hartl Anne Jackson Han Chen Jeroen R. Huyghe Martijn van de Bunt Richard D. Pearson Ashish Kumar Martina Müller‐Nurasyid Niels Grarup Heather M. Stringham Eric R. Gamazon Jaehoon Lee Yuhui Chen Robert A. Scott Jennifer E. Below Peng Chen Jinyan Huang Min Jin Go Michael L. Stitzel Dorota Pasko Stephen C. J. Parker Tibor V. Varga Todd Green Nicola L. Beer Aaron G. Day‐Williams Teresa Ferreira Tasha E. Fingerlin Momoko Horikoshi Cheng Hu Iksoo Huh M. Kamran Ikram Bong-Jo Kim Yongkang Kim Young Jin Kim Min‐Seok Kwon Juyoung Lee Selyeong Lee Keng‐Han Lin Taylor J. Maxwell Yoshihiko Nagai Xu Wang Ryan Welch Joon Yoon Weihua Zhang Nir Barzilai Benjamin F. Voight Bok‐Ghee Han Christopher P. Jenkinson Teemu Kuulasmaa Johanna Kuusisto Alisa K. Manning Maggie C. Y. Ng Colin N. A. Palmer Beverley Balkau Alena Stančáková Hanna E. Abboud Heiner Boeing Vilmantas Giedraitis Dorairaj Prabhakaran Omri Gottesman Berthold Lausen Jason Carey Phoenix Kwan George Grant Joshua D. Smith Benjamin M. Neale Shaun Purcell Adam S. Butterworth Joanna M. M. Howson Heung Man Lee Yingchang Lu Soo‐Heon Kwak Wei Zhao John Danesh Vincent K. Lam Kyong Soo Park Danish Saleheen

10.1038/nature18642 article EN Nature 2016-07-11

10.1038/ng.694 article EN Nature Genetics 2010-10-17

10.1038/ng.873 article EN Nature Genetics 2011-07-10
Cayetano Pleguezuelos‐Manzano Jens Puschhof Axel Rosendahl Huber Arne van Hoeck Henry M. Wood and 95 more Jason Nomburg Carino Gurjao Freek Manders Guillaume Dalmasso Paul B. Stege Fernanda L. Paganelli Maarten H. Geurts Joep Beumer Tomohiro Mizutani Yi Miao Reinier van der Linden Stefan van der Elst J. C. Ambrose P. Arumugam E. L. Baple Marta Bleda F. Boardman-Pretty J. M. Boissiere C. R. Boustred H. Brittain M. J. Caulfield Gcf Chan C. E. H. Craig Louise C. Daugherty Anna de Burca A. Devereau Greg Elgar R. E. Foulger Tom Fowler Pedro Furió‐Tarí J. M. Hackett Dina Halai Angela Hamblin Seton Henderson J. E. Holman Tim Hubbard Kristina Ibáñez R. Jackson Lesley Jones D. Kasperaviciute Melis Kayikci L. Lahnstein Lovett Lawson S. E. A. Leigh Ivone Leong F. J. Lopez F. Maleady-Crowe James Mason Ellen M. McDonagh Loukas Moutsianas Michael Mueller Nirupa Murugaesu A. C. Need Christopher A. Odhams Christine Patch D. Perez-Gil Dimitris Polychronopoulos J. Pullinger T. Rahim Augusto Rendon Pablo Riesgo-Ferreiro Tim Rogers Mina Ryten K. Savage K. Sawant Richard H. Scott Afshan Siddiq A. Sieghart Damian Smedley Katherine R. Smith Alona Sosinsky W. Spooner H. E. Stevens Ashley Stuckey Razia Sultana Mohammad Elaine Thomas S. R. Thompson Carolyn Tregidgo Arianna Tucci Elizabeth T. Walsh S. A. Watters M. J. Welland E. G. Williams Kate Witkowska S. M. Wood Magdalena Zarowiecki K. Christopher García Janetta Top Rob J. L. Willems Marios Giannakis R. Bonnet Philip Quirke Matthew Meyerson Edwin Cuppen Ruben van Boxtel

10.1038/s41586-020-2080-8 article EN Nature 2020-02-27
Aleksejs Sazonovs Nicholas A. Kennedy Loukas Moutsianas Graham Heap Daniel L Rice and 95 more Mark Reppell Claire Bewshea Neil Chanchlani G Walker Mandy H. Perry Timothy J. McDonald Charlie W. Lees Fraser Cummings Miles Parkes John Mansfield Peter M. Irving Jeffrey C. Barrett Dermot McGovern James Goodhand Carl A. Anderson Tariq Ahmad Vinod Patel Zia Mazhar Rebecca Saich Ben Colleypriest Tristan Tham Tariq Iqbal Vishal Kaushik Senthil Murugesan Salil Singh Sean Weaver Cathryn Preston Assad Butt Melissa Smith Dharamveer Basude Amanda Beale Sarah Langlands Natalie Direkze Miles Parkes Franco Torrente Juan De La Revella Negro Chris Ewen MacDonald Stephen M. Evans Anton Gunasekera Alka Thakur David Elphick Achuth Shenoy Chuka Nwokolo Anjan Dhar A.T. Cole Anurag K. Agrawal Stephen Bridger Julie Doherty Sheldon C. Cooper Shanika de Silva Craig Mowat Phillip Mayhead Charlie W. Lees Gareth D. Jones Tariq Ahmad J. W. Hart Daniel R. Gaya Richard K. Russell Lisa Gervais Paul Dunckley Tariq Mahmood Paul Banim Sunil Sonwalkar Deb Ghosh Rosemary Phillips Amer Azaz Shaji Sebastian Richard Shenderey Lawrence Armstrong Claire Bell Radhakrishnan Hariraj Helen Matthews Hasnain Jafferbhoy Christian P. Selinger Veena Zamvar John de Caestecker Anne Willmott Richard Miller Palani Sathish Babu Christos Tzivinikos Stuart Bloom Guy Chung‐Faye Nicholas M. Croft John Fell Marcus Harbord Ailsa Hart Ben Hope Peter M. Irving James O. Lindsay Joel Mawdsley Alistair McNair Kevin Monahan Charles Murray Timothy R. Orchard Thankam Paul

Background & AimsAnti–tumor necrosis factor (anti-TNF) therapies are the most widely used biologic drugs for treating immune-mediated diseases, but repeated administration can induce formation of anti-drug antibodies. The ability to identify patients at increased risk development antibodies would facilitate selection therapy and use preventative strategies.MethodsWe performed a genome-wide association study variants associated with time in discovery cohort 1240 biologic-naïve Crohn's disease...

10.1053/j.gastro.2019.09.041 article EN cc-by-nc-nd Gastroenterology 2019-10-07
Damian Smedley Katherine R. Smith A. Martı́n Ellen A Thomas Ellen M. McDonagh and 95 more Valentina Cipriani Jamie M. Ellingford Gavin Arno Arianna Tucci Jana Vandrovcová G. C. Chan Hywel Williams Thiloka Ratnaike Wei Wei Kathleen Stirrups Kristina Ibáñez Loukas Moutsianas Matthias Wielscher Anna C. Need Michael R. Barnes Letizia Vestito James Buchanan Sarah Wordsworth Sofie Ashford Karola Rehmström Emily Li Gavin Fuller Philip Twiss Olivera Spasić-Bošković Sally Halsall R. Andres Floto Kenneth Poole Annette Wagner Sarju Mehta Mark Gurnell Nigel Burrows Roger James Christopher J. Penkett Eleanor Dewhurst Stefan Gräf Rutendo Mapeta Mary Kasanicki Andrea Haworth Helen Savage Melanie Babcock Martin G. Reese Mark Bale Emma L. Baple C. R. Boustred Helen Brittain Anna de Burca Marta Bleda A. Devereau Dina Halai Eik Haraldsdottir Zerin Hyder Dalia Kasperavičiūtė Christine Patch Dimitris Polychronopoulos Angela Matchan Răzvan Sultana Mina Ryten Ana Lisa Taylor Tavares Carolyn Tregidgo Clare Turnbull M. J. Welland S. M. Wood Catherine Snow Eleanor Williams S. E. A. Leigh Rebecca E. Foulger Louise C. Daugherty Olivia Niblock Ivone Leong Caroline F. Wright Jim Davies Charles Crichton James Welch Kerrie Woods Lara Abulhoul Paul Aurora Detlef Böckenhauer Alexander Broomfield Maureen Cleary Tanya Lam Mehul Dattani Emma Footitt Vijeya Ganesan Stephanie Grünewald Sandrine Compeyrot‐Lacassagne Francesco Muntoni Clarissa Pilkington Rosaline C. M. Quinlivan Nikhil Thapar Colin Wallis Lucy R. Wedderburn Austen Worth Teofila Bueser Cecilia Compton Charu Deshpande

The U.K. 100,000 Genomes Project is in the process of investigating role genome sequencing patients with undiagnosed rare diseases after usual care and alignment this research health implementation National Health Service. Other parts project focus on cancer infection.

10.1056/nejmoa2035790 article EN New England Journal of Medicine 2021-11-10

Whole-genome sequencing (WGS) permits comprehensive cancer genome analyses, revealing mutational signatures, imprints of DNA damage and repair processes that have arisen in each patient's cancer. We performed signature analyses on 12,222 WGS tumor-normal matched pairs, from patients recruited via the UK National Health Service. contrasted our results to two independent datasets, International Cancer Genome Consortium (ICGC) Hartwig Foundation, involving 18,640 cancers total. Our add 40...

10.1126/science.abl9283 article EN Science 2022-04-21
Chris Eijsbouts Tenghao Zheng Nicholas A. Kennedy Ferdinando Bonfiglio Carl A. Anderson and 95 more Loukas Moutsianas Jo Holliday Jingchunzi Shi Suyash Shringarpure Michelle Agee Stella Aslibekyan Adam Auton Robert K. Bell Katarzyna Bryc Sarah Clark Sarah L. Elson Kipper Fletez‐Brant Pierre Fontanillas Nicholas A. Furlotte Pooja Gandhi Karl Heilbron Barry Hicks David A. Hinds Karen E. Huber Ethan M. Jewett Yunxuan Jiang Aaron Kleinman Keng‐Han Lin Nadia K. Litterman Marie K. Luff Jey C. McCreight Matthew H. McIntyre Kimberly F. McManus Joanna L. Mountain Sahar V. Mozaffari Priyanka Nandakumar Elizabeth S. Noblin Carrie A. M. Northover Jared O’Connell Aaron A. Petrakovitz Steven J. Pitts G. David Poznik J. Fah Sathirapongsasuti Anjali J. Shastri Janie F. Shelton Chao Tian Joyce Y. Tung Robert J. Tunney Vladimir Vacic Xin Wang Amir S. Zare Alexandru-Ioan Voda Purna Kashyap Lin Chang Emeran A. Mayer Margaret Heitkemper Gregory S. Sayuk Tamar Ringel‐Kulka Yehuda Ringel William D. Chey Shanti Eswaran Juanita L. Merchant Robert J. Shulman Luís Bujanda Koldo García‐Etxebarria Aldona Dlugosz Greger Lindberg Peter T. Schmidt Pontus Karling Bodil Ohlsson Susanna Walter Åshild Faresjö Magnus Simrén Jonas Halfvarson Piero Portincasa Giovanni Barbara Paolo Usai–Satta Matteo Neri Gerardo Nardone Rosario Cuomo Francesca Galeazzi Massimo Bellini Anna Latiano Lesley A. Houghton Daisy Jonkers Alexander Kurilshikov Rinse K. Weersma Mihai G. Netea Jonas Tesarz Annika Gauss Miriam Goebel‐Stengel Viola Andresen Thomas Frieling Christian Pehl Rainer Schaefert Beate Niesler Wolfgang Lieb Kurt Hanevik Nina Langeland Knut‐Arne Wensaas

Abstract Irritable bowel syndrome (IBS) results from disordered brain–gut interactions. Identifying susceptibility genes could highlight the underlying pathophysiological mechanisms. We designed a digestive health questionnaire for UK Biobank and combined identified cases with IBS independent cohorts. conducted genome-wide association study 53,400 433,201 controls replicated significant associations in 23andMe panel (205,252 1,384,055 controls). Our confirmed six genetic loci IBS. Implicated...

10.1038/s41588-021-00950-8 article EN cc-by Nature Genetics 2021-11-01
Xueqing Zou Gene Ching Chiek Koh Arjun S. Nanda Andrea Degasperi Katie Urgo and 95 more Theodoros I. Roumeliotis Chukwuma A. Agu Cherif Badja Sophie Momen Jamie Young Tauanne Dias Amarante Lucy Side Glen Brice Vanesa Pérez‐Alonso Daniel Rueda Céline Gomez Wendy Bushell Rebecca Harris Jyoti S. Choudhary John C. Ambrose Prabhu Arumugam Emma L. Baple Marta Bleda F. Boardman-Pretty Jeanne M. Boissiere C. R. Boustred Helen Brittain Mark J. Caulfield G. C. Chan Clare Craig Louise C. Daugherty Anna de Burca A. Devereau Greg Elgar Rebecca E. Foulger Tom Fowler Pedro Furió‐Tarí Adam Giess Joanne M. Hackett Dina Halai Angela Hamblin Bingyang Shi James E. Holman Tim Hubbard Kristina Ibáñez Robert W. Jackson J. Louise Jones Dalia Kasperavičiūtė Melis Kayikci Athanasios Kousathanas L. Lahnstein Kay Lawson S. E. A. Leigh I. U. S. Leong Javier Ferreiros F. Maleady-Crowe Joanne Mason Ellen M. McDonagh Loukas Moutsianas Michael Mueller Nirupa Murugaesu Anna C. Need Pter O’Donovan Chris A. Odhams Andrea Orioli Christine Patch Mariana Buongermino Pereira D. Perez-Gil Dimitris Polychronopoulos J. Pullinger T. Rahim Augusto Rendon Pablo Riesgo-Ferreiro Tim Rogers Mina Ryten K. Savage Kushmita Sawant Richard H. Scott Afshan Siddiq A. Sieghart Damian Smedley Katherine R. Smith Samuel C. Smith Alona Sosinsky William Spooner Helen E. Stevens Alexander Stuckey Răzvan Sultana M. Tanguy Ellen Thomas Simon R. Thompson Carolyn Tregidgo Arianna Tucci Emma Walsh Sarah A. Watters M. J. Welland Eleanor Williams Katarzyna Witkowska S. M. Wood Magdalena Zarowiecki

10.1038/s43018-021-00200-0 article EN Nature Cancer 2021-04-26
Kristina Ibáñez James M. Polke R. Tanner Hagelstrom Egor Dolzhenko Dorota Pasko and 95 more Ellen Thomas Louise C. Daugherty Dalia Kasperavičiūtė Katherine R. Smith Zandra C. Deans Sue Hill Tom Fowler Richard H. Scott John Hardy Patrick F. Chinnery Henry Houlden Augusto Rendon Mark J. Caulfield Michael A. Eberle Ryan J. Taft Arianna Tucci Ellen M. McDonagh Antonio Rueda Dimitris Polychronopoulos G. C. Chan Heather Angus‐Leppan Kailash P. Bhatia James Davison Richard Festenstein Pietro Fratta Paola Giunti Robin Howard Laxmi Venkata Matilde Laurá Meriel McEntagart Lara Menzies Huw R. Morris Mary M. Reilly Robert Robinson Elisabeth Rosser Francesca Faravelli Anette Schrag Jonathan M. Schott Thomas T. Warner Nicholas Wood David Bourn Kelly Eggleton Robyn Labrum Philip Twiss Stephen Abbs Liana Santos Ghareesa Almheiri Isabella Sheikh Jana Vandrovcová Christine Patch Ana Lisa Taylor Tavares Zerin Hyder Anna C. Need Helen Brittain Emma L. Baple Loukas Moutsianas Viraj Deshpande Denise Perry Subramanian S. Ajay Aditi Chawla Vani Rajan Kathryn Oprych Patrick F. Chinnery Angela Douglas Gill Wilson Sian Ellard I. Karen Temple Andrew Mumford Dom McMullan Kikkeri N. Naresh Frances Flinter Jenny C. Taylor Lynn Greenhalgh William G. Newman Paul M. Brennan John A. Sayer F. Lucy Raymond Lyn S. Chitty John C. Ambrose Prabhu Arumugam Marta Bleda F. Boardman-Pretty Jeanne M. Boissiere C. R. Boustred C. E. H. Craig Anna de Burca A. Devereau Greg Elgar Rebecca E. Foulger Pedro Furió‐Tarí Joanne Hackett Dina Halai Angela Hamblin Shirley Henderson James Holman

10.1016/s1474-4422(21)00462-2 article EN The Lancet Neurology 2022-02-16

Abstract Mutations in the germline generates all evolutionary genetic variation and is a cause of disease. Parental age primary determinant number new mutations an individual’s genome 1,2 . Here we analysed genome-wide sequences 21,879 families with rare diseases identified 12 individuals hypermutated between two seven times more de novo single-nucleotide variants than expected. In most (9 out 12), excess came from father. Two had drivers hypermutation, fathers carrying damaging DNA-repair...

10.1038/s41586-022-04712-2 article EN cc-by Nature 2022-05-11
Natalia Dominik Stefania Magri Riccardo Currò Elena Abati Stefano Facchini and 95 more Marinella Corbetta Hannah Macpherson Daniela Di Bella Elisa Sarto Igor Stevanovski Sanjog R. Chintalaphani Fulya Akçimen Arianna Manini Elisa Vegezzi Ilaria Quartesan Kylie-Ann Montgomery Valentina Pirota Emmanuele Crespan Cecilia Perini Glenda Paola Grupelli Pedro José Tomaselli Wilson Marques John C. Ambrose Prabhu Arumugam Emma L. Baple Marta Bleda F. Boardman-Pretty J. M. Boissiere C. R. Boustred Helen Brittain Mark J. Caulfield Gary C.W. Chan C.E.H. Craig Louise C. Daugherty Anna de Burca A. Devereau Greg Elgar Rebecca E. Foulger Tom Fowler Pedro Furió‐Tarí Emil K. Gustavsson Janna M. Hackett Dina Halai Angela Hamblin S Henderson J. Holman Tim Hubbard Kristina Ibáñez Robert W. Jackson J. Louise Jones Dalia Kasperavičiūtė Melis Kayikci L. Lahnstein Keith A. Lawson S. E. A. Leigh I. U. S. Leong Fernando López F. Maleady-Crowe James Mason Ellen M. McDonagh Loukas Moutsianas Michael Mueller Nirupa Murugaesu Anna C. Need Chris A. Odhams Christine Patch D. Perez-Gil Dimitris Polychronopoulos J. Pullinger T. Rahim Augusto Rendon Pablo Riesgo-Ferreiro Thomas R. Rogers Mina Ryten Bianca Rugginini K Savage K. Sawant Richard H. Scott Afshan Siddiq A. Sieghart Damian Smedley Katherine R. Smith Alona Sosinsky W. Spooner Hanna E. Stevens Ashley Stuckey Rukhsana Sultana Ellen Thomas Simon R. Thompson Carolyn Tregidgo Arianna Tucci Edward E. Walsh Scott Watters M. J. Welland Eleanor Williams Kate Witkowska Scott Wood Magdalena Zarowiecki Joseph Shaw James M. Polke

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive neurodegenerative disease, usually caused by biallelic AAGGG repeat expansions in RFC1. In this study, we leveraged whole genome sequencing data from nearly 10 000 individuals recruited within the Genomics England project to investigate normal pathogenic variation of RFC1 repeat. We identified three novel motifs, AGGGC (n = 6 five families), AAGGC 2 one family) AGAGG 1), associated with CANVAS...

10.1093/brain/awad240 article EN cc-by Brain 2023-07-14

Statistical imputation of classical HLA alleles in case-control studies has become established as a valuable tool for identifying and fine-mapping signals disease association the MHC. Imputation into diverse populations has, however, remained challenging, mainly because additional haplotypic heterogeneity introduced by combining reference panels different sources. We present an type model, HLA*IMP:02, designed to operate on multi-population panel. HLA*IMP:02 is based graphical representation...

10.1371/journal.pcbi.1002877 article EN cc-by PLoS Computational Biology 2013-02-14

Abstract Motivation: Genetic variation at classical HLA alleles influences many phenotypes, including susceptibility to autoimmune disease, resistance pathogens and the risk of adverse drug reactions. However, typing methods are often prohibitively expensive for large-scale studies. We previously described a method imputing from linked SNP genotype data. Here, we present modification original algorithm implemented in freely available software suite that combines local data preparation QC...

10.1093/bioinformatics/btr061 article EN Bioinformatics 2011-02-07
Amit R. Majithia Jason Flannick Peter Shahinian Michael H. Guo Mark‐Anthony Bray and 95 more Pierre Fontanillas Stacey Gabriel Evan D. Rosen David Altshuler Jason Flannick Man Li Christopher Hartl Vineeta Agarwala Pierre Fontanillas Todd J. Green Eric Banks Mark A. DePristo Ryan Poplin Khalid Shakir Timothy R. Fennell Pål R. Njølstad David Altshuler Noël P. Burtt Stacey Gabriel Christian Fuchsberger Hun Min Kang Xueling Sim Clement Ma Adam E. Locke Thomas W. Blackwell Anne Jackson Tanya M. Teslovich Heather M. Stringham Peter S. Chines Phoenix Kwan Jeroen R. Huyghe Adrian Y. Tan Goo Jun Michael L. Stitzel Richard N. Bergman Lori L. Bonnycastle Jaakko Tuomilehto Francis S. Collins Laura J. Scott Karen L. Mohlke Gonçalo R. Abecasis Michael Boehnke Tim M. Strom Christian Gieger Martina Müller‐Nurasyid Harald Grallert Jennifer Kriebel Janina S. Ried Martin Hrabě de Angelis Cornelia Huth Christa Meisinger Annette Peters Wolfgang Rathmann Konstantin Strauch Thomas Meitinger Jasmina Kravić Peter Algren Claes Ladenvall Tiinamaija Toumi Bo Isomaa Leif Groop Kyle J. Gaulton Loukas Moutsianas Manny Rivas Richard D. Pearson Anubha Mahajan Inga Prokopenko Ashish Kumar John R. B. Perry Bryan Howie Martijn van de Bunt Kerrin S. Small Cecilia M. Lindgren Gerton Lunter Neil Robertson W Rayner Andrew H. Morris David Buck Andrew T. Hattersley Tim D. Spector Gil McVean Timothy M. Frayling Peter Donnelly Mark I. McCarthy Namrata Gupta Herman A. Taylor Ervin R. Fox Christopher Newton Cheh James Wilson Christopher J. O’Donnell Sekar Kathiresan Joel N. Hirschhorn J G Seidman Stacey Gabriel Christine E. Seidman

Peroxisome proliferator-activated receptor gamma (PPARG) is a master transcriptional regulator of adipocyte differentiation and canonical target antidiabetic thiazolidinedione medications. In rare families, loss-of-function (LOF) mutations in PPARG are known to cosegregate with lipodystrophy insulin resistance; the general population, common P12A variant associated decreased risk type 2 diabetes (T2D). Whether how variants defects influence T2D population remains undetermined. By sequencing...

10.1073/pnas.1410428111 article EN Proceedings of the National Academy of Sciences 2014-08-25

Genome and exome sequencing in large cohorts enables characterization of the role rare variation complex diseases. Success this endeavor, however, requires investigators to test a diverse array genetic hypotheses which differ number, frequency effect sizes underlying causal variants. In study, we evaluated power gene-based association methods interrogate such hypotheses, examined implications for study design. We developed flexible simulation approach, using 1000 Genomes data, (a) generate...

10.1371/journal.pgen.1005165 article EN cc-by PLoS Genetics 2015-04-23

Abstract The subset of patients who develop critical illness in Covid-19 have extensive inflammation affecting the lungs 1 and are strikingly different from other patients: immunosuppressive therapy benefits critically-ill patients, but may harm some non-critical cases. 2 Since susceptibility to life-threatening infections immune-mediated diseases both strongly heritable traits, we reasoned that host genetic variation identify mechanistic targets for therapeutic development Covid-19. 3...

10.1101/2020.09.24.20200048 preprint EN cc-by-nc-nd medRxiv (Cold Spring Harbor Laboratory) 2020-09-25

Several strands of evidence question the dogma that human mitochondrial DNA (mtDNA) is inherited exclusively down maternal line, most recently in three families where several individuals harbored a 'heteroplasmic haplotype' consistent with biparental transmission. Here we report similar genetic signature 7 11,035 trios, allelic fractions 5-25%, implying inheritance mtDNA 0.06% offspring. However, analysing nuclear whole genome sequence, observe likely large rare or unique...

10.1038/s41467-020-15336-3 article EN cc-by Nature Communications 2020-04-08

10.1016/j.ajhg.2021.05.017 article EN publisher-specific-oa The American Journal of Human Genetics 2021-06-03
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