Genetics in Medicine · 2008 · 158 citations · 66 references
BioinformaticsFunctional GenomicsEnhanced DetectionMedicineGenetic EpidemiologyPathologyPersonal GenomicsOmicsBiostatisticsGene Expression ProfilingPublic HealthMolecular DiagnosticsGenomic MedicineMicroarray Data AnalysisRelevant Genomic ImbalancesWhole Genome
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Initial sequencing and analysis of the human genome
Eric S. Lander, Lauren Linton, Bruce W. Birren et al. · Nature · 2001 · 24.3K citations · Full text
The Human Genome Browser at UCSC
W. James Kent, Charles W. Sugnet, Terrence S. Furey et al. · Genome Research · 2002 · 10.7K citations · Full text
Global variation in copy number in the human genome
Richard Redon, Shumpei Ishikawa, Karen Fitch et al. · Nature · 2006 · 4.3K citations · Full text
Comparative Genomic Hybridization for Molecular Cytogenetic Analysis of Solid Tumors
Anne Kallioniemi, Olli Kallioniemi, Damir Sudar et al. · Science · 1992 · 3.3K citations
Detection of large-scale variation in the human genome
A. John Iafrate, Lars Feuk, Miguel N. Rivera et al. · Nature Genetics · 2004 · 2.9K citations