PubMed · 2013 · 357 citations · 33 references
Life SciencesGeneticsMolecular GeneticsGenomic Data AnalysisGenomicsMedical GeneticsClinical GenomicsDna SequencingGenome SequencingGenomic ProfilingNext-generation SequencingSequence Quality ControlClinical Genome SequencingClinical Genomic DiagnosticsMedical Genetics And Genomics GuidelinesPrenatal Whole-genome SequencingWhole Genome Sequencing StudiesWhole-genome Sequencing Analysis
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A map of human genome variation from population-scale sequencing
Exome sequencing identifies the cause of a mendelian disorder
Sarah Ng, Kati J. Buckingham, Choli Lee et al. · Nature Genetics · 2009 · 1.9K citations · Full text
The complete genome of an individual by massively parallel DNA sequencing
David A. Wheeler, Maithreyan Srinivasan, Yufeng Shen et al. · Nature · 2008 · 1.8K citations · Full text
Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
Jared C. Roach, Gustavo Glusman, Arian F. A. Smit et al. · Science · 2010 · 1.1K citations · Full text