BOL: Results for "calls"

Results for "calls"

- Jit@jit.aber
geck: trio-based comparative benchmarking of variant calls
Determine the accuracy of our model by comparing the precision and recall of GATK Unified Genotyper and Haplotype Caller on the high-confidence SNPs of the NIST Ashkenazim trio and the two independent Platinum Genome trios. We show that our method is able to estimate differential precis...
Tags: geck, trio-based, comparative, benchmarking, variant, calls
1806 days ago
- Jit@jit.aber
Parliament2: Runs a combination of tools to generate structural variant calls on whole-genome sequencing data
Parliament2 identifies structural variants in a given sample relative to a reference genome. These structural variants cover large deletion events that are called as Deletions of a region, Insertions of a sequence into a region, Duplications of a region, Inversions of a region, or Translocations ...
Tags: Parliament2, structural, variant, calls, whole-genome, sequencing, data, NGS
1431 days ago