Nature Genetics · 2014 · 158 citations · 31 references
Life SciencesGeneticsMolecular GeneticsEpilepsyIon Channel BiophysicsNeurogeneticsChannelopathiesEpilepsy GeneticsEpilepsy SyndromesGenetic EpilepsiesIon Channel DisordersIon Channel PhysiologyVoltage-gated Potassium Channels
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Trimmomatic: a flexible trimmer for Illumina sequence data
Anthony Bolger, Marc Lohse, Björn Usadel · Bioinformatics · 2014 · 69.7K citations · Full text
Fast and accurate short read alignment with Burrows–Wheeler transform
Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text
A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
Pablo Cingolani, Adrian E. Platts, Le Lily Wang et al. · Fly · 2012 · 12.7K citations · Full text
VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing
Daniel C. Koboldt, Qunyuan Zhang, David E. Larson et al. · Genome Research · 2012 · 5.3K citations · Full text