Rafael Aldana

DNAscope improves small variant calling accuracy and reduces computational cost compared to DNAseq using a machine-learned genotyping model.

The paper identifies mis-annotated multi-nucleotide variants (MNVs) in cancer genomics datasets, showing they lead to incorrect amino acid change predictions and recommends merging SNVs into MNVs for accurate variant annotation.

A haplotype-based somatic variant caller paired with a machine learning filter, reported as more accurate than other callers on in-silico mixtures of GIAB reference samples.

Sentieon's rewrite of GATK and MuTect pipelines runs on average 36x faster than GATK Best Practices on public human data while matching its calls (average F-score 0.9996).