DNAscope: High accuracy small variant calling using machine learning
Freed, D. N.; Pan, R.; Chen, H.; Li, Z.; Hu, J.; Aldana, R.
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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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