L
Loukas Moutsianas
Researcher at Wellcome Trust Sanger Institute
Publications - 74
Citations - 16517
Loukas Moutsianas is an academic researcher from Wellcome Trust Sanger Institute. The author has contributed to research in topics: Genome-wide association study & Medicine. The author has an hindex of 28, co-authored 49 publications receiving 13675 citations. Previous affiliations of Loukas Moutsianas include University of Oxford & Wellcome Trust Centre for Human Genetics.
Papers
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Posted ContentDOI
Genetic and pharmacological causes of germline hypermutation
Joanna Kaplanis,Ide B,Rashesh Sanghvi,Matthew D. C. Neville,Petr Danecek,Elena Prigmore,Patrick J. Short,Giuseppe Gallone,Jeremy F. McRae,Christopher A. Odhams,Loukas Moutsianas,Jenny Carmichael,Angela Barnicoat,Helen V. Firth,Helen V. Firth,Patrick J. O’Brien,Raheleh Rahbari,Matthew E. Hurles +17 more
TL;DR: For example, the authors analyzed the genome-wide sequences of 21,879 families with rare genetic diseases and identified 12 hypermutated individuals with between two and seven times more de novo single nucleotide variants (dnSNVs) than expected.
Book ChapterDOI
Genetic Association in the HLA Region.
TL;DR: How the signal in the HLA region can be interrogated in practice is discussed, from performing the imputation to understanding its output and to incorporating it into downstream analysis.
Journal ArticleDOI
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Reem Al-Jawahiri,Aidin Foroutan,Jennifer Kerkhof,H. McConkey,Michael D. Levy,Sadegheh Haghshenas,Kathleen Annabel Rooney,Jasmin E. Turner,Deborah J. Shears,Muriel Holder,Henrietta Lucy Lefroy,Bruce Castle,Linda M. Reis,Elena V. Semina,Katherine Lachlan,Kate Chandler,Thomas C. Wright,Jill Clayton-Smith,Franziska Hug,Nelly Pitteloud,Lucia Bartoloni,Sabine Hoffjan,Soo Mi Park,Ajay Thankamony,Melissa Lees,Emma Wakeling,S Naik,Britta Hanker,Katta M. Girisha,Emanuele Agolini,Zampino Giuseppe,Ziegler Alban,Marine Tessarech,Boris Keren,Alexandra Afenjar,Christiane Zweier,André Reis,Thomas Smol,Yoshinori Tsurusaki,Okamoto Nobuhiko,Futoshi Sekiguchi,Naomi Tsuchida,Naomichi Matsumoto,Ikuyo Kou,Yoshiro Yonezawa,Shiro Ikegawa,Bert Callewaert,Megan Freeth,Lotte Kleinendorst,Alan Donaldson,Marielle Alders,Anne De Paepe,Bekim Sadikovic,Alisdair McNeill,Deborah A. Nickerson,Michael J. Bamshad,Suzanne M. Leal,J. Ambrose,Prabhu Arumugam,Roel P. J. Bevers,Marta Bleda,Freya Boardman-Pretty,Chris Boustred,Helen Brittain,Mark J. Caulfield,G. Chan,Greg Elgar,Tom Fowler,Adam Giess,Angela Hamblin,Shirley Henderson,Tim Hubbard,R. Jackson,L. J. Jones,Dalia Kasperaviciute,Melis Kayikci,Athanasios Kousathanas,L. Lahnstein,Sarah Leigh,I. Leong,Javier Fernández López,FionaMaleady-Crowe,Meriel McEntagart,Federico Minneci,Loukas Moutsianas,M. Mueller,Nirupa Murugaesu,Anna C. Need,Peter O'Donovan,Christopher A. Odhams,Christine Patch,Mariana Buongermino Pereira,Daniel Perez-Gil,John Pullinger,TahrimaRahim,Augusto Rendon,TimRogers,Kevin Savage,K. Sawant,Richard T. Scott,Afshan Siddiq,A. Sieghart,Samuel C. Smith,Alona Sosinsky,Alexander Stuckey,Mélanie Tanguy,Ana Lisa Taylor Tavares,Ellen Thomas,Simon G. Thompson,Arianna Tucci,M. Welland,Eleanor Williams,K. Witkowska,S. Wood +113 more
TL;DR: In this paper , a multidisciplinary characterization of the phenotype associated with SOX11 variants was carried out by using exome and genome sequencing and international data sharing, and a distinctive pattern of blood DNA methylation was identified.
Journal ArticleDOI
Grid Methodology for Identifying Co-Regulated Genes and Transcription Factor Binding Sites
TL;DR: The Markov clustering algorithm is extended to multiple species exploiting the grid framework allowing it to identify DNA-binding sites from a collection of noncoding DNA sequences from co-regulated genes.
Journal ArticleDOI
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy
Robert Lesurf,Abdelrahman Fekry Abdelrahman Said,Oyediran Akinrinade,Jeroen Breckpot,Kathleen Delfosse,Ting Liu,Roderick Yao,Gabrielle Persad,Fintan McKenna,Ramil R. Noche,Winona Oliveros,Kaia Mattioli,Anastasia Miron,Qian Yang,Guoliang Meng,M. Yue,Wilson W L Sung,Bhooma Thiruvahindrapuram,Jane Lougheed,Erwin Oechslin,Tapas Mondal,Lynn Bergin,John Smythe,Shashank Jayappa,Vinay J. Rao,Jayaprakash Shenthar,Perundurai S. Dhandapany,Christopher Semsarian,Robert G. Weintraub,Richard D. Bagnall,Jodie Ingles,J. Ambrose,Prabhu Arumugam,Emma L. Baple,Marta Bleda,Freya Boardman-Pretty,Jean-Marie Boissiere,Chris Boustred,Hank Brittain,Margaret Caulfield,G. Chan,C. E. H. Craig,Louise C. Daugherty,Anna de Burca,Andrew D. Devereau,Guy Elgar,Rebecca E. Foulger,Tom Fowler,Pedro Furió-Tarí,Adriane Giess,J. Hackett,Dina Halai,A Hamblin,Seth Henderson,J. Holman,Tim Hubbard,Kristina Ibáñez,R. Jackson,L. J. Jones,Dalia Kasperaviciute,Mehmet Suat Kayikci,Athanasios Kousathanas,L. Lahnstein,K. Lawson,Sarah Leigh,I. Leong,F. J. López,Fiona Maleady-Crowe,John Mason,Eamonn McDonagh,Loukas Moutsianas,M. Mueller,Nirupa Murugaesu,Anna C. Need,Christopher A. Odhams,A. L. Orioli,Clyde L. Patch,Daniel Perez-Gil,M. Pereira,Dimitris Polychronopoulos,John Pullinger,T. Rahim,Augusto Rendon,Pablo Riesgo-Ferreiro,Tim Rogers,Mark Ryten,K Savage,K. Sawant,Robt. H. Scott,Afshan Siddiq,A. Sieghart,D. A. Smedley,K. Smith,S.C. Smith,Alona Sosinsky,William Spooner,H. E. Stevens,Alexander Stuckey,Rozina Sultana,Maël Tanguy,Era Thomas,Simon G. Thompson,Carolyn Tregidgo,Arianna Tucci,E. Walsh,Stephen Andrew Watters,M. Welland,Eleanor Williams,K. Witkowska,S. Wood,Magdalena Zarowiecki,Marta Mele,Philipp Maass,James H Ellis,Stephen W. Scherer,Seema Mital +115 more
TL;DR: In this paper , the authors analyzed whole-genome sequencing (WGS) data in a discovery cohort of 209 pediatric CMP patients and 1953 independent replication genomes and exomes and provided strong evidence for the genomic contribution of functionally active variants in new genes and in regulatory elements of known CMP genes to early onset CMP.