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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Wellcome Trust Sanger Institute1, University of Santiago de Compostela2, University College London3, University of Bergen4, Haukeland University Hospital5, Katholieke Universiteit Leuven6, University of Cambridge7, University of Liverpool8, University of East Anglia9, Institute of Cancer Research10, University of Tampere11, Johns Hopkins University12, Netherlands Cancer Institute13, Université libre de Bruxelles14, Erasmus University Medical Center15, University of Iceland16, University of Queensland17, Royal Brisbane and Women's Hospital18, University of Lyon19, Oslo University Hospital20, Radboud University Nijmegen21, Harvard University22, Curie Institute23, Royal National Orthopaedic Hospital24, University of Texas MD Anderson Cancer Center25
TL;DR: It is found that 3′ transduction activity in a patient’s tumor was always associated with hypomethylation of that element, and in some cases transduction events can scatter exons, genes, and regulatory elements widely across the genome.
Abstract: Long interspersed nuclear element-1 (L1) retrotransposons are mobile repetitive elements that are abundant in the human genome. L1 elements propagate through RNA intermediates. In the germ line, neighboring, nonrepetitive sequences are occasionally mobilized by the L1 machinery, a process called 3' transduction. Because 3' transductions are potentially mutagenic, we explored the extent to which they occur somatically during tumorigenesis. Studying cancer genomes from 244 patients, we found that tumors from 53% of the patients had somatic retrotranspositions, of which 24% were 3' transductions. Fingerprinting of donor L1s revealed that a handful of source L1 elements in a tumor can spawn from tens to hundreds of 3' transductions, which can themselves seed further retrotranspositions. The activity of individual L1 elements fluctuated during tumor evolution and correlated with L1 promoter hypomethylation. The 3' transductions disseminated genes, exons, and regulatory elements to new locations, most often to heterochromatic regions of the genome.
338 citations
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University of Washington1, Boston University2, Erasmus University Medical Center3, University of London4, University of Minnesota5, Wellcome Trust Sanger Institute6, University of Edinburgh7, Karolinska Institutet8, King's College London9, University of Bristol10, National Institutes of Health11, Erasmus University Rotterdam12, University of Texas at Austin13, Harvard University14, Cedars-Sinai Medical Center15
TL;DR: In this paper, the authors conducted genome-wide association studies to identify new loci associated with plasma levels, including coagulation factors VII (FVII), VIII (FVIII), and von Willebrand factor (vWF).
Abstract: Background— Plasma levels of coagulation factors VII (FVII), VIII (FVIII), and von Willebrand factor (vWF) influence risk of hemorrhage and thrombosis. We conducted genome-wide association studies to identify new loci associated with plasma levels. Methods and Results— The setting of the study included 5 community-based studies for discovery comprising 23 608 European-ancestry participants: Atherosclerosis Risk In Communities Study, Cardiovascular Health Study, British 1958 Birth Cohort, Framingham Heart Study, and Rotterdam Study. All subjects had genome-wide single-nucleotide polymorphism (SNP) scans and at least 1 phenotype measured: FVII activity/antigen, FVIII activity, and vWF antigen. Each study used its genotype data to impute to HapMap SNPs and independently conducted association analyses of hemostasis measures using an additive genetic model. Study findings were combined by meta-analysis. Replication was conducted in 7604 participants not in the discovery cohort. For FVII, 305 SNPs exceeded the ...
336 citations
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Estonian Biocentre1, University of Bologna2, University of Cambridge3, University of Bristol4, Harvard University5, King Abdullah University of Science and Technology6, University of Tartu7, University of Montpellier8, Massey University9, University of Auckland10, Pennsylvania State University11, University of California, San Francisco12, Biodesign Institute13, Arizona State University14, University of Southampton15, University of Montana16, National Academy of Sciences of Belarus17, Wellcome Trust Sanger Institute18, Kuban State Medical University19, University of Georgia20, University of Copenhagen21, Griffith University22, Academy of Sciences of Uzbekistan23, L.N.Gumilyov Eurasian National University24, University of Dhaka25, Georgia Institute of Technology26, University of Pennsylvania27, Russian Academy of Sciences28, Academy of Medical Sciences, United Kingdom29, Royal Free Hospital30, University of Kharkiv31, Centre national de la recherche scientifique32, Eijkman Institute for Molecular Biology33, North-Eastern Federal University34, Josip Juraj Strossmayer University of Osijek35, Armenian National Academy of Sciences36, University of Winchester37, University Hospital Heidelberg38, Novosibirsk State University39, Bashkir State University40, International Burch University41, Russian Academy42, University College London43, James Cook University44, University of Papua New Guinea45, Max Planck Society46, University of California, Berkeley47, Estonian Academy of Sciences48
TL;DR: A genetic signature in present-day Papuans that suggests that at least 2% of their genome originates from an early and largely extinct expansion of anatomically modern humans (AMHs) out of Africa earlier than 75,000 years ago is found.
Abstract: High-coverage whole-genome sequence studies have so far focused on a limited number of geographically restricted populations, or been targeted at specific diseases, such as cancer. Nevertheless, the availability of high-resolution genomic data has led to the development of new methodologies for inferring population history and refuelled the debate on the mutation rate in humans. Here we present the Estonian Biocentre Human Genome Diversity Panel (EGDP), a dataset of 483 high-coverage human genomes from 148 populations worldwide, including 379 new genomes from 125 populations, which we group into diversity and selection sets. We analyse this dataset to refine estimates of continent-wide patterns of heterozygosity, long- and short-distance gene flow, archaic admixture, and changes in effective population size through time as well as for signals of positive or balancing selection. We find a genetic signature in present-day Papuans that suggests that at least 2% of their genome originates from an early and largely extinct expansion of anatomically modern humans (AMHs) out of Africa. Together with evidence from the western Asian fossil record, and admixture between AMHs and Neanderthals predating the main Eurasian expansion, our results contribute to the mounting evidence for the presence of AMHs out of Africa earlier than 75,000 years ago.
336 citations
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TL;DR: The results indicate that heterogeneous gene expression, as early as the 4-cell stage, initiates cell-fate decisions by modulating the balance of pluripotency and differentiation.
335 citations
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TL;DR: In many tumors, the coding sequence of 518 protein kinases was examined, and a few had numerous somatic mutations with distinctive patterns indicative of either a mutator phenotype or a past exposure.
Abstract: We examined the coding sequence of 518 protein kinases, approximately 1.3 Mb of DNA per sample, in 25 breast cancers. In many tumors, we detected no somatic mutations. But a few had numerous somatic mutations with distinctive patterns indicative of either a mutator phenotype or a past exposure.
335 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 |