European Journal of Human Genetics · 2014 · 65 citations · 29 references
MedicineMolecular BiologyNeuroscienceEpilepsyEpileptologyGenomicsDna SequencingEpilepsy GeneticsEpilepsy SyndromesGenetic EpilepsiesNext-generation SequencingSequencing-based DiagnosticsClinical Genomic DiagnosticsEpilepsy DiagnosisHigh-throughput Sequencing AnalysisNext-generation Sequencing AssaysNext-generation Sequencing-based Diagnosis
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The Sequence Alignment/Map format and SAMtools
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Fast and accurate short read alignment with Burrows–Wheeler transform
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A framework for variation discovery and genotyping using next-generation DNA sequencing data
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De novo mutations in epileptic encephalopathies