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
Papers
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National Institutes of Health1, University of Helsinki2, University of Tampere3, University of Oulu4, University of Eastern Finland5, Imperial College London6, Virginia Commonwealth University7, Indiana University8, Turku University Hospital9, Helsinki University Central Hospital10, University of Melbourne11, Walter and Eliza Hall Institute of Medical Research12, Churchill Hospital13, Wellcome Trust Centre for Human Genetics14, University of Turku15, University of Tartu16, Semel Institute for Neuroscience and Human Behavior17, Wellcome Trust Sanger Institute18
TL;DR: A GWAS on 8,330 Finnish individuals genotyped and imputed at 7.7 million SNPs for a range of 216 serum metabolic phenotypes assessed by NMR of serum samples identified significant associations at 31 loci, including 11 for which there have not been previous reports of associations to a metabolic trait or disorder.
Abstract: Samuli Ripatti and colleagues report a genome-wide association study for human serum metabolites using NMR of serum samples from over 8,000 Finnish individuals. They identify 31 loci associated with at least one of 216 serum metabolic measures.
497 citations
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University of Lübeck1, University of Leicester2, University of Regensburg3, University of Leeds4, Harvard University5, French Institute of Health and Medical Research6, University of Washington7, Lund University8, National Institutes of Health9, Wellcome Trust Sanger Institute10, University of Milan11, Medical Research Council12, University of Pavia13, University of Mainz14, University of Kiel15, Synlab Group16, Heidelberg University17, Medical University of Graz18, Technische Universität München19, University of Cambridge20
TL;DR: A three-stage analysis of genome-wide SNP data in 1,222 German individuals with myocardial infarction and 1,298 controls is presented and suggestive association with a locus on 12q24.31 near HNF1A-C12orf43 is identified.
Abstract: We present a three-stage analysis of genome-wide SNP data in 1,222 German individuals with myocardial infarction and 1,298 controls, in silico replication in three additional genome-wide datasets of coronary artery disease (CAD) and subsequent replication in similar to 25,000 subjects. We identified one new CAD risk locus on 3q22.3 in MRAS (P = 7.44 x 10(-13); OR = 1.15, 95% CI = 1.11-1.19), and suggestive association with a locus on 12q24.31 near HNF1A-C12orf43 (P = 4.81 x 10(-7); OR = 1.08, 95% CI = 1.05-1.11).
497 citations
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University of Toulouse1, University of British Columbia2, Institut national de la recherche agronomique3, University of Paris4, University of Colorado Boulder5, University of Georgia6, Tel-Hai Academic College7, Dow AgroSciences8, DuPont Pioneer9, University of California, Davis10, Indiana University11, University of Memphis12, Wellcome Trust Sanger Institute13
TL;DR: It is found that the genomic architecture of flowering time has been shaped by the most recent whole-genome duplication, which suggests that ancient paralogues can remain in the same regulatory networks for dozens of millions of years.
Abstract: The domesticated sunflower, Helianthus annuus L, is a global oil crop that has promise for climate change adaptation, because it can maintain stable yields across a wide variety of environmental conditions, including drought Even greater resilience is achievable through the mining of resistance alleles from compatible wild sunflower relatives, including numerous extremophile species Here we report a high-quality reference for the sunflower genome (36 gigabases), together with extensive transcriptomic data from vegetative and floral organs The genome mostly consists of highly similar, related sequences and required single-molecule real-time sequencing technologies for successful assembly Genome analyses enabled the reconstruction of the evolutionary history of the Asterids, further establishing the existence of a whole-genome triplication at the base of the Asterids II clade and a sunflower-specific whole-genome duplication around 29 million years ago An integrative approach combining quantitative genetics, expression and diversity data permitted development of comprehensive gene networks for two major breeding traits, flowering time and oil metabolism, and revealed new candidate genes in these networks We found that the genomic architecture of flowering time has been shaped by the most recent whole-genome duplication, which suggests that ancient paralogues can remain in the same regulatory networks for dozens of millions of years This genome represents a cornerstone for future research programs aiming to exploit genetic diversity to improve biotic and abiotic stress resistance and oil production, while also considering agricultural constraints and human nutritional needs
497 citations
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University of Cambridge1, Laboratory of Molecular Biology2, Babraham Institute3, University College London4, Newcastle University5, Boston Children's Hospital6, Trinity College, Dublin7, University of Oxford8, Raigmore Hospital9, University of Paris10, McGill University11, Wellcome Trust Sanger Institute12, National Autonomous University of Mexico13
TL;DR: Activated PI3K-δ syndrome (APDS), a PID associated with a dominant gain-of-function mutation in which lysine replaced glutamic acid at residue 1021 (E1021K) in the p110δ protein, the catalytic subunit of phosphoinositide 3-kinase δ (PI3Kδ), encoded by the PIK3CD gene is described.
Abstract: Genetic mutations cause primary immunodeficiencies (PIDs) that predispose to infections. Here, we describe activated PI3K-δ syndrome (APDS), a PID associated with a dominant gain-of-function mutation in which lysine replaced glutamic acid at residue 1021 (E1021K) in the p110δ protein, the catalytic subunit of phosphoinositide 3-kinase δ (PI3Kδ), encoded by the PIK3CD gene. We found E1021K in 17 patients from seven unrelated families, but not among 3346 healthy subjects. APDS was characterized by recurrent respiratory infections, progressive airway damage, lymphopenia, increased circulating transitional B cells, increased immunoglobulin M, and reduced immunoglobulin G2 levels in serum and impaired vaccine responses. The E1021K mutation enhanced membrane association and kinase activity of p110δ. Patient-derived lymphocytes had increased levels of phosphatidylinositol 3,4,5-trisphosphate and phosphorylated AKT protein and were prone to activation-induced cell death. Selective p110δ inhibitors IC87114 and GS-1101 reduced the activity of the mutant enzyme in vitro, which suggested a therapeutic approach for patients with APDS.
496 citations
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TL;DR: It is shown that mapping gene expression in defined primary cell populations identifies new cell type–specific trans-regulated networks and provides insights into the genetic basis of disease susceptibility.
Abstract: Trans-acting genetic variants have a substantial, albeit poorly characterized, role in the heritable determination of gene expression Using paired purified primary monocytes and B cells, we identify new predominantly cell type-specific cis and trans expression quantitative trait loci (eQTLs), including multi-locus trans associations to LYZ and KLF4 in monocytes and B cells, respectively Additionally, we observe a B cell-specific trans association of rs11171739 at 12q132, a known autoimmune disease locus, with IP6K2 (P = 58 × 10(-15)), PRIC285 (P = 30 × 10(-10)) and an upstream region of CDKN1A (P = 2 × 10(-52)), suggesting roles for cell cycle regulation and peroxisome proliferator-activated receptor γ (PPARγ) signaling in autoimmune pathogenesis We also find that specific human leukocyte antigen (HLA) alleles form trans associations with the expression of AOAH and ARHGAP24 in monocytes but not in B cells In summary, we show that mapping gene expression in defined primary cell populations identifies new cell type-specific trans-regulated networks and provides insights into the genetic basis of disease susceptibility
494 citations
Authors
Showing all 4058 results
Name | H-index | Papers | Citations |
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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 |