publication . Article . Other literature type . 2015

An interactive genome browser of association results from the UK10K cohorts project

Geihs, Matthias; Yan, Ying; Walter, Klaudia; Huang, Jie; Memari, Yasin; Min, Josine L; Mead, Daniel; UK10K Consortium,; Hubbard, Tim J; Timpson, Nicholas J; ...
  • Published: 01 Aug 2015
  • Country: United Kingdom
Abstract
Summary: High-throughput sequencing technologies survey genetic variation at genome scale and are increasingly used to study the contribution of rare and low-frequency genetic variants to human traits. As part of the Cohorts arm of the UK10K project, genetic variants called from low-read depth (average 7×) whole genome sequencing of 3621 cohort individuals were analysed for statistical associations with 64 different phenotypic traits of biomedical importance. Here, we describe a novel genome browser based on the Biodalliance platform developed to provide interactive access to the association results of the project. Availability and implementation: The browser is...
Subjects
free text keywords: UK10K Consortium, Humans, Linkage Disequilibrium, Genome, Human, Software, Genetic Variation, Genetic Association Studies, High-Throughput Nucleotide Sequencing, /dk/atira/pure/subjectarea/asjc/1300/1303, Biochemistry, /dk/atira/pure/subjectarea/asjc/1300/1312, Molecular Biology, /dk/atira/pure/subjectarea/asjc/1700/1703, Computational Theory and Mathematics, /dk/atira/pure/subjectarea/asjc/1700/1706, Computer Science Applications, /dk/atira/pure/subjectarea/asjc/2600/2605, Computational Mathematics, /dk/atira/pure/subjectarea/asjc/2600/2613, Statistics and Probability, Applications Notes, Genetics and Population Analysis
Funded by
WT| 10,000 UK genome sequences: accessing the role of rare genetic variants in health and disease.
Project
  • Funder: Wellcome Trust (WT)
  • Project Code: 091310
  • Funding stream: Genetics, Genomics and Population Research
,
EC| EPIGENESYS
Project
EPIGENESYS
Epigenetics towards systems biology
  • Funder: European Commission (EC)
  • Project Code: 257082
  • Funding stream: FP7 | SP1 | HEALTH
,
EC| BLUEPRINT
Project
BLUEPRINT
A BLUEPRINT of Haematopoietic Epigenomes
  • Funder: European Commission (EC)
  • Project Code: 282510
  • Funding stream: FP7 | SP1 | HEALTH
Download fromView all 6 versions
Apollo
Article . 2015
Provider: Apollo
http://dx.doi.org/10.17863/cam...
Other literature type . 2018
Provider: Datacite

Adams D. (2012) BLUEPRINT to decode the epigenetic signature written in blood. Nat. Biotechnol., 30, 224–226.22398613 [OpenAIRE] [PubMed]

Down T.A. (2011) Dalliance: interactive genome viewing on the web. Bioinformatics, 27, 889–890.21252075 [OpenAIRE] [PubMed]

Encode Project Consortium et al. (2012) An integrated encyclopedia of DNA elements in the human genome. Nature, 489, 57–74.22955616 [OpenAIRE] [PubMed]

Kent W.J. (2010) BigWig and BigBed: enabling browsing of large distributed datasets. Bioinformatics, 26, 2204–2207.20639541 [OpenAIRE] [PubMed]

Raney B.J. (2014) Track data hubs enable visualization of user-defined genome-wide annotations on the UCSC Genome Browser. Bioinformatics, 30, 1003–1005.24227676 [OpenAIRE] [PubMed]

Roadmap Epigenomics C. (2015) Integrative analysis of 111 reference human epigenomes. Nature, 518, 317–330.25693563 [OpenAIRE] [PubMed]

UK10K Consortium. (2015) The UK10K project identifies rare variants in health and disease, Nature, 526, 82–90.26367797 [OpenAIRE] [PubMed]

Abstract
Summary: High-throughput sequencing technologies survey genetic variation at genome scale and are increasingly used to study the contribution of rare and low-frequency genetic variants to human traits. As part of the Cohorts arm of the UK10K project, genetic variants called from low-read depth (average 7×) whole genome sequencing of 3621 cohort individuals were analysed for statistical associations with 64 different phenotypic traits of biomedical importance. Here, we describe a novel genome browser based on the Biodalliance platform developed to provide interactive access to the association results of the project. Availability and implementation: The browser is...
Subjects
free text keywords: UK10K Consortium, Humans, Linkage Disequilibrium, Genome, Human, Software, Genetic Variation, Genetic Association Studies, High-Throughput Nucleotide Sequencing, /dk/atira/pure/subjectarea/asjc/1300/1303, Biochemistry, /dk/atira/pure/subjectarea/asjc/1300/1312, Molecular Biology, /dk/atira/pure/subjectarea/asjc/1700/1703, Computational Theory and Mathematics, /dk/atira/pure/subjectarea/asjc/1700/1706, Computer Science Applications, /dk/atira/pure/subjectarea/asjc/2600/2605, Computational Mathematics, /dk/atira/pure/subjectarea/asjc/2600/2613, Statistics and Probability, Applications Notes, Genetics and Population Analysis
Funded by
WT| 10,000 UK genome sequences: accessing the role of rare genetic variants in health and disease.
Project
  • Funder: Wellcome Trust (WT)
  • Project Code: 091310
  • Funding stream: Genetics, Genomics and Population Research
,
EC| EPIGENESYS
Project
EPIGENESYS
Epigenetics towards systems biology
  • Funder: European Commission (EC)
  • Project Code: 257082
  • Funding stream: FP7 | SP1 | HEALTH
,
EC| BLUEPRINT
Project
BLUEPRINT
A BLUEPRINT of Haematopoietic Epigenomes
  • Funder: European Commission (EC)
  • Project Code: 282510
  • Funding stream: FP7 | SP1 | HEALTH
Download fromView all 6 versions
Apollo
Article . 2015
Provider: Apollo
http://dx.doi.org/10.17863/cam...
Other literature type . 2018
Provider: Datacite

Adams D. (2012) BLUEPRINT to decode the epigenetic signature written in blood. Nat. Biotechnol., 30, 224–226.22398613 [OpenAIRE] [PubMed]

Down T.A. (2011) Dalliance: interactive genome viewing on the web. Bioinformatics, 27, 889–890.21252075 [OpenAIRE] [PubMed]

Encode Project Consortium et al. (2012) An integrated encyclopedia of DNA elements in the human genome. Nature, 489, 57–74.22955616 [OpenAIRE] [PubMed]

Kent W.J. (2010) BigWig and BigBed: enabling browsing of large distributed datasets. Bioinformatics, 26, 2204–2207.20639541 [OpenAIRE] [PubMed]

Raney B.J. (2014) Track data hubs enable visualization of user-defined genome-wide annotations on the UCSC Genome Browser. Bioinformatics, 30, 1003–1005.24227676 [OpenAIRE] [PubMed]

Roadmap Epigenomics C. (2015) Integrative analysis of 111 reference human epigenomes. Nature, 518, 317–330.25693563 [OpenAIRE] [PubMed]

UK10K Consortium. (2015) The UK10K project identifies rare variants in health and disease, Nature, 526, 82–90.26367797 [OpenAIRE] [PubMed]

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publication . Article . Other literature type . 2015

An interactive genome browser of association results from the UK10K cohorts project

Geihs, Matthias; Yan, Ying; Walter, Klaudia; Huang, Jie; Memari, Yasin; Min, Josine L; Mead, Daniel; UK10K Consortium,; Hubbard, Tim J; Timpson, Nicholas J; ...