Performance comparison: exome sequencing as a single test replacing Sanger sequencing

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

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Haplotype-based variant detection from short-read sequencing

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Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

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Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

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