Nature Methods · 2008 · 409 citations · 14 references
Life SciencesGeneticsMolecular BiologyComputational BiologyGenomic Data AnalysisGenomicsDna SequencingGenome SequencingNext-generation SequencingVariant AnalysisVariant CallingVariant DetectionDe Novo Variant DiscoveryVariant Calling From AlignmentsVariant Calling From Long ReadsVariant Calling From Rna SequencingVariant DiscoveryWhole Genome Sequencing StudiesWhole-genome Sequencing Analysis
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Initial sequencing and analysis of the human genome
Eric S. Lander, Lauren Linton, Bruce W. Birren et al. · Nature · 2001 · 24.6K citations · Full text
Finishing the euchromatic sequence of the human genome
<i>Consed:</i> A Graphical Tool for Sequence Finishing
David Gordon, Chris Abajian, Phil Green · Genome Research · 1998 · 3.3K citations · Full text
Fine-scale structural variation of the human genome
Eray Tüzün, Andrew J. Sharp, Jeffrey A. Bailey et al. · Nature Genetics · 2005 · 1K citations