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Rare Event Detection Using Error-corrected DNA and RNA Sequencing
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Low-level variant calling for non-matched samples using a position-based and nucleotide-specific approach

Jeffrey N Dudley1, Celine S Hong2, Marwan A Hawari1

  • 1National Human Genome Research Institute, National Institutes of Health, 50 South Drive Room 5140, Bethesda, MD, 20892, USA.

BMC Bioinformatics
|April 9, 2021
PubMed
Abstract

Keywords:
Mosaic variantsPrediction of mosaic variantsSomatic overgrowth disorder

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