Abstract
AbstractWe present DNAscope, an accurate and efficient germline small-variant caller. DNAscope combines the robust and well-established preprocessing and assembly mathematics of the GATK’s HaplotypeCaller with a machine-learned genotyping model. Benchmarks of DNAscope and DNAseq (Sentieon’s GATK-matching germline variant calling pipeline) demonstrate that DNAscope achieves superior SNP and insertion/deletion accuracy with reduced computational cost.
Publisher
Cold Spring Harbor Laboratory
Reference19 articles.
1. Garrison, E. & Marth, G. Haplotype-based variant detection from short-read sequencing. ArXiv12073907 Q-Bio (2012).
2. Poplin, R. et al. Scaling accurate genetic variant discovery to tens of thousands of samples. bioRxiv (2018).
3. PrecisionFDA Truth Challenge – precisionFDA. Available at: https://precision.fda.gov/challenges/truth/results. (Accessed: 10th March 2019)
4. Extensive sequencing of seven human genomes to characterize benchmark reference materials;Sci. Data,2016
5. An open resource for accurately benchmarking small variant and reference calls;Nat Biotechnol,2019
Cited by
7 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献