bioRxivBioinformaticsPreprint
DNAscope: High accuracy small variant calling using machine learning
Donald N. FreediD, Renke Pan, Haodong CheniD, Zhipan LiiD, Jinnan HuiD, Rafael AldanaiD
Abstract
We present DNAscope, an accurate and efficient germline small-variant caller. DNAscope combines the robust and well-established preprocessing and assembly mathematics of the GATKs HaplotypeCaller with a machine-learned genotyping model. Benchmarks of DNAscope and DNAseq (Sentieons GATK-matching germline variant calling pipeline) demonstrate that DNAscope achieves superior SNP and insertion/deletion accuracy with reduced computational cost.
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