A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes

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Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text

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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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

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From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline

Géraldine Van der Auwera, Mauricio O. Carneiro, Christopher Hartl et al. · Current Protocols in Bioinformatics · 2013 · 7.2K citations

Life Sciences, Bioinformatics, Genetics +14

Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives

Min Zhao, Qingguo Wang, Quan Wang et al. · BMC Bioinformatics · 2013 · 594 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17