Article

precisionFDA Truth Challenge V2: Calling variants from short- and long-reads in difficult-to-map regions

2020-11-15

Abstract excerpt

<h4>Summary</h4> The precisionFDA Truth Challenge V2 aimed to assess the state-of-the-art of variant calling in difficult-to-map regions and the Major Histocompatibility Complex (MHC). Starting with FASTQ files, 20 challenge participants applied their variant calling pipelines and submitted 64 variant callsets for one or more sequencing technologies (~35X Illumina, ~35X PacBio HiFi, and ~50X Oxford Nanopore Techn...

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Literature Corpus work: 76c72f9c-7309-5ae8-9ed7-e5b136a47037
DOI: 10.1101/2020.11.13.380741

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