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.
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Journal ArticleDOI
Genetic and chemotherapeutic influences on germline hypermutation
Joanna Kaplanis,Benjamin Ide,Rashesh Sanghvi,Matthew D. C. Neville,Petr Danecek,Tim H. H. Coorens,Elena Prigmore,Patrick J. Short,Giuseppe Gallone,Jeremy F. McRae,Loukas Chris Moutsianas Odhams,Loukas Moutsianas,Christopher A. Odhams,Jenny Carmichael,Angela Barnicoat,Helen V. Firth,Patrick J O'brien,Raheleh Rahbari,Matthew Hurles +18 more
TL;DR: In this article , the authors analyzed the genome-wide sequences of 21,879 families with rare genetic diseases and identified 12 individuals with a hypermutated genome with between two and seven times more de novo single-nucleotide variants than expected.
Posted ContentDOI
Exploring the genetic architecture of inflammatory bowel disease by whole genome sequencing identifies association at ADCY7
Yang Luo,Katrina M. de Lange,Luke Jostins,Loukas Moutsianas,Joshua C. Randall,Nicholas A. Kennedy,Christopher A. Lamb,Shane A. McCarthy,Tariq Ahmad,Cathryn Edwards,Eva Goncalves Serra,Ailsa Hart,Christopher J. Hawkey,John C. Mansfield,Craig Mowat,William G. Newman,Sam Nichols,Martin O. Pollard,Jack Satsangi,Alison Simmons,Mark Tremelling,Holm H. Uhlig,David C Wilson,James Lee,Natalie J. Prescott,Charlie W. Lees,Christopher G. Mathew,Miles Parkes,Jeffrey C. Barrett,Carl A. Anderson +29 more
TL;DR: A 0.6% frequency missense variant in ADCY7 that doubles risk of ulcerative colitis, and offers insight into a new aspect of disease biology is discovered, suggesting that more comprehensive sequencing studies will continue to improve the understanding of the biology of complex diseases.
Journal ArticleDOI
Methodology for the analysis of rare genetic variation in genome-wide association and re-sequencing studies of complex human traits.
TL;DR: A general framework for modelling the joint effects of rare genetic variants on complex traits in association studies of unrelated individuals is described and a range of widely used association tests that have been developed from this model are summarised.
Posted ContentDOI
Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease
Katrina M. de Lange,Loukas Moutsianas,James Lee,Christopher A. Lamb,Yang Luo,Nicholas A. Kennedy,Luke Jostins,Daniel L. Rice,Javier Gutierrez-Achury,Sun-Gou Ji,Graham A. Heap,Elaine R. Nimmo,Cathryn Edwards,Paul Henderson,Craig Mowat,Jeremy D. Sanderson,Jack Satsangi,Alison Simmons,David C. Wilson,Mark Tremelling,Ailsa Hart,Christopher G. Mathew,William G. Newman,Miles Parkes,Charlie W. Lees,Holm H. Uhlig,Christopher J. Hawkey,Natalie J. Prescott,Tariq Ahmad,John C. Mansfield,Carl A. Anderson,Jeffrey C. Barrett +31 more
TL;DR: Twenty-six new genome-wide significant loci are identified, three of which contain integrin genes that encode molecules in pathways identified as important therapeutic targets in inflammatory bowel disease, and are correlated with expression changes in response to immune stimulus at two of these genes.
Journal ArticleDOI
Assessing association between protein truncating variants and quantitative traits
Manuel A. Rivas,Matti Pirinen,Matt J. Neville,Kyle J. Gaulton,Loukas Moutsianas,Cecilia M. Lindgren,Fredrik Karpe,Mark I. McCarthy,Peter Donnelly +8 more
TL;DR: This work proposes a Bayesian modelling framework for the analysis of protein truncating variants and quantitative traits and finds strong evidence of association between low plasma triglyceride levels and protein truncated variants at APOC3 (Apolipoprotein C3).