Communications of the ACM · 2013 · 14 citations · 17 references
ComputingBioinformaticsComputer ScienceComputational BiologyDatabasesGenomicsComputational GenomicsData AbstractionData IntegrationGenomic Data IntegrationGenomic Data VisualizationGenomic DatabasesDatabase Query InterfacesEvidence IntegrationGenomic Data Access Control
Large genomic databases with interactive access require new, layered abstractions, including separating "evidence" from "inference."
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A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo, Eric Banks, Ryan Poplin et al. · Nature Genetics · 2011 · 12.4K citations · Full text
A Controlled Trial of Natalizumab for Relapsing Multiple Sclerosis
David H. Miller, Omar Khan, William Sheremata et al. · New England Journal of Medicine · 2003 · 1.2K 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
Genetic Determinants of Response to Warfarin during Initial Anticoagulation
Ute I. Schwarz, Marylyn D. Ritchie, Yuki Bradford et al. · New England Journal of Medicine · 2008 · 581 citations · Full text
Medicine, Genetics, Pharmacology +13