Genomics · 2018 · 51 citations · 27 references
Long-read SequencingFunctional GenomicsNext-generation SequencingGeneticsGenetic EpidemiologyStatistical GeneticsOmicsQuality ControlBiostatisticsGenomicsDisease Sequencing ProjectPublic HealthGenome SequencingMedicineBioinformaticsSequence AssemblyHigh Throughput Sequencing
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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 · 28.9K citations · Full text
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo, Eric Banks, Ryan Poplin et al. · Nature Genetics · 2011 · 12.1K citations · Full text
Dna Sequencing, Sequencing, Medicine +14
MultiQC: summarize analysis results for multiple tools and samples in a single report
Philip Ewels, Måns Magnusson, Sverker Lundin et al. · Bioinformatics · 2016 · 9.5K citations · Full text
A map of human genome variation from population-scale sequencing