Molecular characteristics of varicocele: integration of whole-exome and transcriptome sequencing

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Life Sciences, Bioinformatics, Genetics +17

Fast and accurate short read alignment with Burrows–Wheeler transform

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

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

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang, Man Li, Håkon Håkonarson · Nucleic Acids Research · 2010 · 15.6K citations · Full text

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REVIGO Summarizes and Visualizes Long Lists of Gene Ontology Terms

Fran Supek, Matko Bošnjak, Nives Škunca et al. · PLoS ONE · 2011 · 7K citations · Full text

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