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Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

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Charting a course for genomic medicine from base pairs to bedside

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

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Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome

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Automated inference of molecular mechanisms of disease from amino acid substitutions

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Fast and accurate short read alignment with Burrows-Wheeler transform

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Targeted capture and massively parallel sequencing of 12 human exomes

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Power of deep, all-exon resequencing for discovery of human trait genes

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