novoBreak: local assembly for breakpoint detection in cancer genomes

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

Aaron McKenna, Matthew G. Hanna, Eric Banks et al. · Genome Research · 2010 · 30K citations · Full text

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

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Space/time trade-offs in hash coding with allowable errors

Burton H. Bloom · Communications of the ACM · 1970 · 7.5K citations · Full text

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

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DELLY: structural variant discovery by integrated paired-end and split-read analysis

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Life Sciences, Genetics, Molecular Genetics +17