Article

DNAscope: High accuracy small variant calling using machine learning

2022-05-22

Abstract excerpt

We present DNAscope, an accurate and efficient germline small-variant caller. DNAscope combines the robust and well-established preprocessing and assembly mathematics of the GATK’s HaplotypeCaller with a machine-learned genotyping model. Benchmarks of DNAscope and DNAseq (Sentieon’s GATK-matching germline variant calling pipeline) demonstrate that DNAscope achieves superior SNP and insertion/deletion accuracy with...

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Literature Corpus work: b934ecc5-7d53-5899-b0d8-b5986bdfc72a
DOI: 10.1101/2022.05.20.492556

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