Nature Methods · 2012 · 476 citations · 13 references
Life SciencesBioinformaticsGeneticsGenomic Data AnalysisGenomic InformaticsGenomicsDna SequencingGenome SequencingGenome Sequencing InformaticsGenomic DatabasesNext-generation SequencingVariant AnalysisCurated Genome DatabasesData AccessData Management PlatformsDistributed Genomic DatabasesGenome Metadata ManagementGenomic Data SharingOpen Data ManagementWhole-genome Sequencing Analysis
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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The Sequence Alignment/Map format and SAMtools
Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 67.5K citations · Full text
The variant call format and VCFtools
Petr Danecek, Adam Auton, Gonçalo R. Abecasis et al. · Bioinformatics · 2011 · 17.8K citations · Full text
A map of human genome variation from population-scale sequencing
Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
William McLaren, Bethan Pritchard, Daniel Ríos et al. · Bioinformatics · 2010 · 1.7K citations · Full text