Explanipedia

National Genomic Research Library Open

Mark J. Caulfield, Jim Davies, Martin Dennys, Leila Elbahy, Tom Fowler , et al. · 2025

The National Genomic Research Library (NGRL) is a secure database and bioresource managed by Genomics England in partnership with the NHS. The NGRL contains participants’ health data collected by the NHS as part of their care, along with s…

A blood atlas of COVID-19 defines hallmarks of disease severity and specificity Open

David Ahern, Zhichao Ai, Mark Ainsworth, Chris Allan, Alice Allcock , et al. · 2022

Mapping of the autophagosomal degradome identifies IL-7Rα as key cargo in proliferating CD4+ T-cells Open

Dingxi Zhou, Mariana Borsa, Daniel J. Puleston, Susanne Zellner, Jesusa Capera , et al. · 2021

CD4+ T cells orchestrate both humoral and cytotoxic immune responses. While it is known that CD4+ T cell proliferation relies on autophagy, direct identification of the autophagosomal cargo involved is still missing. Here, we created a tra…

GWAS of stool frequency provides insights into gastrointestinal motility and irritable bowel syndrome Open

Ferdinando Bonfiglio, Xingrong Liu, Christopher S. Smillie, Anita Pandit, Alexander Kurilshikov , et al. · 2021

An Integrated Taxonomy for Monogenic Inflammatory Bowel Disease Open

Chrissy Bolton, Christopher S. Smillie, Sumeet Pandey, Rasa Elmentaite, Gabrielle Wei , et al. · 2021

A blood atlas of COVID-19 defines hallmarks of disease severity and specificity Open

David Ahern, Zhichao Ai, Mark Ainsworth, Chris Allan, Alice Allcock , et al. · 2021

Summary Treatment of severe COVID-19 is currently limited by clinical heterogeneity and incomplete understanding of potentially druggable immune mediators of disease. To advance this, we present a comprehensive multi-omic blood atlas in pa…

Genomic profiling of T-cell activation suggests increased sensitivity of memory T cells to CD28 costimulation Open

Dafni A. Glinos, Blagoje Soskic, Cayman Williams, Alan Kennedy, Luke Jostins , et al. · 2020

Comparison of LABORAS with static incapacitance testing for assessing spontaneous pain behaviour in surgically-induced murine osteoarthritis Open

Isabell S. von Loga, Jadwiga Miotla‐Zarebska, Yishu Huang, Richard Williams, Luke Jostins , et al. · 2020

Static incapacitance testing is superior to LABORAS for measuring spontaneous pain behaviour in surgically induced murine OA.

GWAS of stool frequency reveals genes, pathways, and cell types relevant to human gastrointestinal motility and irritable bowel syndrome Open

Ferdinando Bonfiglio, Xingrong Liu, Christopher S. Smillie, Anita Pandit, Alexander Kurilshikov , et al. · 2020

Objective Gut dysmotility is associated with constipation, diarrhea, and functional gastrointestinal disorders (FGID) like irritable bowel syndrome (IBS). Its molecular underpinnings, and their anomalies in FGID disorders are poorly charac…

The National Genomics Research and Healthcare Knowledgebase Open

Mark J. Caulfield, Jim Davies, Martin Dennys, Leila Elbahy, Tom Fowler , et al. · 2020

This document sets out the protocol for the National Genomic Research Library (the Library), and is a development of the 100,000 Genomes Project. It reflects the evolution of the ambition to sequence 100,000 Genomes by 2018, to an ongoing …

Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population Open

Manuel A. Rivas, Brandon E. Avila, Jukka Koskela, Hailiang Huang, Christine Stevens , et al. · 2019

Correction of 2018 article: PLoS Genet 14(5): e1007329. https://doi.org/10.1371/journal.pgen.1007329 PMID: 29795570

Inferiority of laboras over incapacitance testing to measure spontaneous murine osteoarthritis pain Open

Isabell S. von Loga, Luke Jostins, Jadwiga Miotla‐Zarebska, Yongyi HUANG, M. Curtinha , et al. · 2019

Bayesian meta‐analysis across genome‐wide association studies of diverse phenotypes Open

Holly Trochet, Matti Pirinen, Gavin Band, Luke Jostins, Gil McVean , et al. · 2019

Genome‐wide association studies (GWAS) are a powerful tool for understanding the genetic basis of diseases and traits, but most studies have been conducted in isolation, with a focus on either a single or a set of closely related phenotype…

Active immunisation targeting nerve growth factor attenuates chronic pain behaviour in murine osteoarthritis Open

Isabell S. von Loga, Aadil El-Turabi, Luke Jostins, Jadwiga Miotla‐Zarebska, Jennifer Alderson , et al. · 2019

This study demonstrates therapeutic efficacy of a novel NGF vaccine strategy that reversibly alleviates spontaneous pain behaviour in surgically induced murine OA.

The National Genomics Research and Healthcare Knowledgebase Open

Mark J. Caulfield, Jim Davies, Martin Dennys, Leila Elbahy, Tom Fowler , et al. · 2019

This document sets out the protocol for the further development of the 100,000 Genomes Project, and the inclusion of the research component of genomic data (up to the level of whole genome sequencing) as part of the future NHS-commissioned…

Bayesian meta-analysis across genome-wide association studies of diverse phenotypes Open

Holly Trochet, Matti Pirinen, Gavin Band, Luke Jostins, Gil McVean , et al. · 2018

Genome-wide association studies (GWAS) are a powerful tool for understanding the genetic basis of diseases and traits, but most studies have been conducted in isolation, with a focus on either a single or a set of closely related phenotype…

Genomic profiling of T cell activation reveals dependency of memory T cells on CD28 costimulation Open

Dafni A. Glinos, Blagoje Soskic, Luke Jostins, David M. Sansom, Gosia Trynka · 2018

Summary T cell activation is a critical driver of immune response and if uncontrolled, it can result in failure to respond to infection or in excessive inflammation and autoimmunity. CD28 costimulatory pathway is an essential regulator of …

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population Open

Manuel A. Rivas, Brandon E. Avila, Jukka Koskela, Hailiang Huang, Christine Stevens , et al. · 2018

As part of a broader collaborative network of exome sequencing studies, we developed a jointly called data set of 5,685 Ashkenazi Jewish exomes. We make publicly available a resource of site and allele frequencies, which should serve as a …

Graphical Model Selection for Gaussian Conditional Random Fields in the Presence of Latent Variables Open

Benjamin Frot, Luke Jostins, Gil McVean · 2018

We consider the problem of learning a conditional Gaussian graphical model in the presence of latent variables. Building on recent advances in this field, we suggest a method that decomposes the parameters of a conditional Markov random fi…

Graphical Model Selection for Gaussian Conditional Random Fields in the Presence of Latent Variables Open

Benjamin Frot, Luke Jostins, Gil McVean · 2018

We consider the problem of learning a conditional Gaussian graphical model in the presence of latent variables. Building on recent advances in this field, we suggest a method that decomposes the parameters of a conditional Markov random fi…

Bayesian analysis of genetic association across tree-structured routine healthcare data in the UK Biobank Open

Adrián Cortés, Calliope A. Dendrou, Allan Motyer, Luke Jostins, Damjan Vukcevic , et al. · 2017

Fine-mapping inflammatory bowel disease loci to single-variant resolution Open

Hailiang Huang, Ming Fang, Luke Jostins, Maša Umićević Mirkov, Gabrielle Boucher , et al. · 2017

Bayesian analysis of genetic association across tree-structured routine healthcare data in the UK Biobank Open

Adrián Cortés, Calliope A. Dendrou, Allan Motyer, Luke Jostins, Damjan Vukcevic , et al. · 2017

Genetic discovery from the multitude of phenotypes extractable from routine healthcare data has the ability to radically transform our understanding of the human phenome, thereby accelerating progress towards precision medicine. However, a…

OP001 Whole genome sequencing and imputation in inflammatory bowel disease identifies 26 novel loci and offers therapeutically-relevant mechanistic insights Open

Loukas Moutsianas, Katrina de Lange, Yang Luo, J Lee, Luke Jostins , et al. · 2017

Background: Most of the 215 risk loci associated with inflammatory bowel diseases (IBD) to date were discovered by genotyping arrays and are driven by common variants. Such assays, however, do not adequately capture lower frequency …

Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease Open

Katrina M. de Lange, Loukas Moutsianas, James Lee, Christopher A Lamb, Yang Luo , et al. · 2017

Genetic association studies have identified 215 risk loci for inflammatory bowel disease, thereby uncovering fundamental aspects of its molecular biology. We performed a genome-wide association study of 25,305 individuals and conducted a m…

Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7 Open

Yang Luo, Katrina M. de Lange, Luke Jostins, Loukas Moutsianas, Joshua C. Randall , et al. · 2017

Genome-wide association study identifies distinct genetic contributions to prognosis and susceptibility in Crohn's disease Open

James Lee, Daniele Biasci, Rebecca Roberts, Richard B. Gearry, John Mansfield , et al. · 2017

The 100,000 Genomes Project Protocol Open

Mark J. Caulfield, Jim Davies, Martin Dennys, Leila Elbahy, Tom Fowler , et al. · 2017

This document sets out the protocol for the development, delivery, and operation of the 100,000 Genomes Project. It also details the patient and clinical benefits, the scientific and transformational objectives, the implementation strategy…

Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease Open

Sun‐Gou Ji, Brian D. Juran, Sören Mucha, Trine Folseraas, Luke Jostins , et al. · 2016

Resolving <i>TYK2</i> locus genotype-to-phenotype differences in autoimmunity Open

Calliope A. Dendrou, Adrián Cortés, Lydia Shipman, Hayley G. Evans, Kathrine E. Attfield , et al. · 2016

Resolving TYK2 locus genotype-to-phenotype differences reveals an immune signaling optimum that may be exploited therapeutically for treating autoimmune diseases.

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