Article

Benchmarking challenging small variants with linked and long reads

2020-07-25

Abstract excerpt

<h4>Summary</h4> Genome in a Bottle (GIAB) benchmarks have been widely used to help validate clinical sequencing pipelines and develop new variant calling and sequencing methods. Here, we use accurate linked reads and long reads to expand the prior benchmarks in 7 samples to include difficult-to-map regions and segmental duplications that are not readily accessible to short reads. Our new benchmark adds more than...

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Literature Corpus work: 96c03063-3fa7-5ea0-9c7d-5520875224af
DOI: 10.1101/2020.07.24.212712

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