Article

vcfdist: Accurately benchmarking phased small variant calls in human genomes

2023-03-12

Abstract excerpt

<h4> Abstract </h4> Accurately benchmarking small variant calling accuracy is critical for the continued improvement of human whole genome sequencing. In this work, we show that current variant calling evaluations are biased towards certain variant representations and may misrepresent the relative performance of different variant calling pipelines. We propose solutions, first exploring the affine gap parameter d...

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Literature Corpus work: 7ce61246-4984-5df6-8219-282dcb5e191d
DOI: 10.1101/2023.03.10.532078

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