Detection of SNVs, indels, structural variants from aligned reads. Bayesian genotype likelihoods (GATK, DeepVariant). Filters: allele balance, mapping quality, strand bias. Benchmarked against GIAB truth sets.
Detection of SNVs, indels, structural variants from aligned reads. Bayesian genotype likelihoods (GATK, DeepVariant). Filters: allele balance, mapping quality, strand bias. Benchmarked against GIAB truth sets.