The 1000 Genomes Project: Data Management and Community Access
By Laura Clarke, Xiangqun Zheng-Bradley, Richard I Smith, Eugene Kulesha, Chunlin Xiao, I. Toneva, Brendan W. Vaughan, Don Preuss, Rasko Leinonen, Martin Shumway and 2 more. Nature Methods, 2012
425 citations recorded by the source corpus.
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.
Subfields: Genetics, Molecular Biology
View Paper: https://www.semanticscholar.org/paper/bd0b411f06e2f44d553e66c2bb920eab0b7703a5
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In Genetics
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- Rachel Karchin
- Christopher Douville
- Anton Nekrutenko
- James Taylor
- Paul Flicek
- Mauno Vihinen
In Molecular Biology
- Peter D. Stenson
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- Fiona Cunningham
- Laurent Gil
- Anja Thormann
- Rachel Karchin
- Anton Nekrutenko
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Citations in the corpus
- Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST‐Indel) (2015, result): “This result is consistent with previous reports that literature mining is a useful proxy for the importance of a given gene to human health [Schuler et al., 1996; Karchin et al., 2005; Wheeler et al., 2007; Masica and Karchin, 2011; Capriotti et al., 2012; Clarke et al., 2012].”
- The Ensembl Variant Effect Predictor (2016, methodology): “Recognising this value, major population sequencing initiatives have been launched in Iceland (Gudbjartsson et al. 2015), the UK (100,000 Genomes Project 2014) and the USA (Precision Medicine Initiative, Collins and Varmus 2015).”
- Next-generation sequencing data interpretation: enhancing reproducibility and accessibility (2012, background): “34 for a description of data and access; the analysis of the main phase is currently underway).”