The 1000 Genomes Project Consortium: The 1000 Genomes Project: data management and community access

European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.
Nature Methods (Impact Factor: 32.07). 04/2012; 9(5):459-62. DOI: 10.1038/nmeth.1974
Source: PubMed


The 1000 Genomes Project was launched as one of the largest distributed data collection and analysis projects ever undertaken in biology. In addition to the primary scientific goals of creating both a deep catalog of human genetic variation and extensive methods to accurately discover and characterize variation using new sequencing technologies, the project makes all of its data publicly available. Members of the project data coordination center have developed and deployed several tools to enable widespread data access.

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    • "heightened security , rapid scalability , dynamic allocation of services , and flexible costing , and can in principle ease collabora - tion between dispersed located research groups by using a shared environment on a ' pay - as - you - go ' basis ( Zhao et al , 2013 ) . The 1000 Genomes Project , which catalogues human sequence variation through deep sequencing of the genomes of over 1000 individuals worldwide , uses a 200 TB Amazon cloud - based data repository solution ( Clarke et al , 2012 ) . Commercial cloud storage solutions are also provided by Google and Microsoft , and have been used by many research institutes worldwide , namely the NIH and the European Bioinformatics Institute . "
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    • "We analysed publically available cancer genome datasets at the cBioPortal for Cancer Genomics (Supplementary data) providing access to data from 20,958 tumour samples from 89 cancer studies (data available up to 21st January 2015) [22] [23] and data from the 1000 Genome project [24] [25] [26] to identify mutations, copy-number alterations and mRNA expression levels (using a mRNA expression z-score threshold value of ± 2.0). "
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    • "Other sequence detection methods are based on magnetic tweezers (Linnarsson, 2012) or on other approaches, such as nanopore sequencing analysis, in which single molecules of DNA can be deciphered as they pass through a tiny channel (Pennisi, 2012). All these techniques have facilitated whole-genome or exome sequencing at an unprecedented scale, thus allowing the launch of initiatives such as the 1000 Genomes Project, which seeks to analyze DNA variations in human populations (Clarke et al., 2012). It has been suggested that each genome contains 1.5 10 5 new single nucleotide variants (SNVs) that are not present in the dbSNP database (Pelak et al., 2010). "
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