Institution
Wellcome Trust Sanger Institute
Nonprofit•Cambridge, United Kingdom•
About: Wellcome Trust Sanger Institute is a nonprofit organization based out in Cambridge, United Kingdom. It is known for research contribution in the topics: Population & Genome. The organization has 4009 authors who have published 9671 publications receiving 1224479 citations.
Topics: Population, Genome, Gene, Genome-wide association study, Genomics
Papers published on a yearly basis
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National Institute for Health Research1, Harvard University2, Montreal Heart Institute3, University of North Carolina at Chapel Hill4, Wellcome Trust Sanger Institute5, VA Boston Healthcare System6, Osaka University7, Icahn School of Medicine at Mount Sinai8, University of Wisconsin–Milwaukee9, Kyushu University10, University of Washington11, University of Bristol12, University of Copenhagen13, Erasmus University Medical Center14, National Institutes of Health15, Veterans Health Administration16, Kaiser Permanente17, International Agency for Research on Cancer18, Wake Forest University19, Imperial College London20, Broad Institute21, Greifswald University Hospital22, University of Pennsylvania23, British Heart Foundation24, Fred Hutchinson Cancer Research Center25, Chinese National Human Genome Center26, Technische Universität München27, University of Tampere28, University of Tokyo29, University of Ioannina30, University of Colorado Denver31, Duke University32, University of Virginia33, University of Minnesota34, Turku University Hospital35, Los Angeles Biomedical Research Institute36, Stanford University37, Mashhad University of Medical Sciences38, NHS Blood and Transplant39, Brigham and Women's Hospital40, University of Oxford41, University of Liège42, European Bioinformatics Institute43, John Radcliffe Hospital44
TL;DR: The results show the power of large-scale blood cell trait GWAS to interrogate clinically meaningful variants across a wide allelic spectrum of human variation.
284 citations
TL;DR: Polygenic predictive modeling showed significantly increased genetic loading among 1,364 cases with moderate to severe endometriosis and rs12700667, located in an intergenic region upstream of the plausible candidate genes NFE2L3 and HOXA10, was the strongest association signal.
Abstract: Krina Zondervan and colleagues report a genome-wide association study for endometriosis. The authors identify a susceptibility locus on chromosome 7p15.
284 citations
TL;DR: Panaroo is introduced, a graph-based pangenome clustering tool that is able to account for many of the sources of error introduced during the annotation of prokaryotic genome assemblies.
Abstract: Population-level comparisons of prokaryotic genomes must take into account the substantial differences in gene content resulting from horizontal gene transfer, gene duplication and gene loss. However, the automated annotation of prokaryotic genomes is imperfect, and errors due to fragmented assemblies, contamination, diverse gene families and mis-assemblies accumulate over the population, leading to profound consequences when analysing the set of all genes found in a species. Here, we introduce Panaroo, a graph-based pangenome clustering tool that is able to account for many of the sources of error introduced during the annotation of prokaryotic genome assemblies. Panaroo is available at
https://github.com/gtonkinhill/panaroo
.
284 citations
University College London1, National Institutes of Health2, French Institute of Health and Medical Research3, Centre national de la recherche scientifique4, Queen Mary University of London5, Pasteur Institute6, University of Cambridge7, Wellcome Trust8, University of Bristol9, VU University Amsterdam10, University of Amsterdam11, Broad Institute12, Harvard University13, Radboud University Nijmegen14, Newcastle University15, University of Birmingham16, University Hospitals Birmingham NHS Foundation Trust17, University of Aberdeen18, Wellcome Trust Sanger Institute19, University of Kiel20, Imperial College London21, Washington University in St. Louis22, deCODE genetics23, Leiden University Medical Center24, Erasmus University Medical Center25, Pennsylvania State University26, Cardiff University27, Biogen Idec28
TL;DR: Using a dataset of post-mortem brain samples assayed for gene expression and methylation, methylation and expression changes associated with PD risk variants in PARK16/1q32, GPNMB/7p15, and STX1B/16p11 loci are identified, suggesting potential molecular mechanisms and candidate genes at these risk loci.
Abstract: A previous genome-wide association (GWA) meta-analysis of 12,386 PD cases and 21,026 controls conducted by the International Parkinson's Disease Genomics Consortium (IPDGC) discovered or confirmed 11 Parkinson's disease (PD) loci. This first analysis of the two-stage IPDGC study focused on the set of loci that passed genome-wide significance in the first stage GWA scan. However, the second stage genotyping array, the ImmunoChip, included a larger set of 1,920 SNPs selected on the basis of the GWA analysis. Here, we analyzed this set of 1,920 SNPs, and we identified five additional PD risk loci (combined p<5x10(-10), PARK16/1q32, STX1B/16p11, FGF20/8p22, STBD1/4q21, and GPNMB/7p15). Two of these five loci have been suggested by previous association studies (PARK16/1q32, FGF20/8p22), and this study provides further support for these findings. Using a dataset of post-mortem brain samples assayed for gene expression (n = 399) and methylation (n = 292), we identified methylation and expression changes associated with PD risk variants in PARK16/1q32, GPNMB/7p15, and STX1B/16p11 loci, hence suggesting potential molecular mechanisms and candidate genes at these risk loci.
283 citations
TL;DR: Genome-wide genotyping of Finnish, Dutch and Japanese cohorts and replication studies in the Japanese cohort identified common SNPs on chromosomes 2q, 8q and 9p that show significant association with intracranial aneurysm with odds ratios 1.24–1.36.
Abstract: Stroke is the world's third leading cause of death. One cause of stroke, intracranial aneurysm, affects approximately 2% of the population and accounts for 500,000 hemorrhagic strokes annually in mid-life (median age 50), most often resulting in death or severe neurological impairment. The pathogenesis of intracranial aneurysm is unknown, and because catastrophic hemorrhage is commonly the first sign of disease, early identification is essential. We carried out a multistage genome-wide association study (GWAS) of Finnish, Dutch and Japanese cohorts including over 2,100 intracranial aneurysm cases and 8,000 controls. Genome-wide genotyping of the European cohorts and replication studies in the Japanese cohort identified common SNPs on chromosomes 2q, 8q and 9p that show significant association with intracranial aneurysm with odds ratios 1.24-1.36. The loci on 2q and 8q are new, whereas the 9p locus was previously found to be associated with arterial diseases, including intracranial aneurysm. Associated SNPs on 8q likely act via SOX17, which is required for formation and maintenance of endothelial cells, suggesting a role in development and repair of the vasculature; CDKN2A at 9p may have a similar role. These findings have implications for the pathophysiology, diagnosis and therapy of intracranial aneurysm.
283 citations
Authors
Showing all 4058 results
| Name | H-index | Papers | Citations |
|---|---|---|---|
| Nicholas J. Wareham | 212 | 1657 | 204896 |
| Gonçalo R. Abecasis | 179 | 595 | 230323 |
| Panos Deloukas | 162 | 410 | 154018 |
| Michael R. Stratton | 161 | 443 | 142586 |
| David W. Johnson | 160 | 2714 | 140778 |
| Michael John Owen | 160 | 1110 | 135795 |
| Naveed Sattar | 155 | 1326 | 116368 |
| Robert E. W. Hancock | 152 | 775 | 88481 |
| Julian Parkhill | 149 | 759 | 104736 |
| Nilesh J. Samani | 149 | 779 | 113545 |
| Michael Conlon O'Donovan | 142 | 736 | 118857 |
| Jian Yang | 142 | 1818 | 111166 |
| Christof Koch | 141 | 712 | 105221 |
| Andrew G. Clark | 140 | 823 | 123333 |
| Stylianos E. Antonarakis | 138 | 746 | 93605 |