Data released on September 22, 2017
Current human whole genome sequencing projects produce massive amounts of data, often creating significant computational challenges. Different approaches have been developed for each type of genome variant and method of its detection, necessitating users to run multiple algorithms to find variants.
We present GROM (Genome Rearrangement OmniMapper), a novel comprehensive variant detection algorithm accepting aligned read files as input and finding SNVs, indels, structural variants (SVs), and copy number variants (CNVs). We show that GROM outperforms state-of-the-art methods on seven validated benchmarks using two whole genome sequencing (WGS) datasets. Additionally, GROM boasts lightning fast run times, analyzing a 50x WGS human dataset (NA12878) on commonly available computer hardware in 11 minutes, more than an order of magnitude (up to 72 times) faster than tools detecting a similar range of variants.
Addressing the needs of big data analysis, GROM combines in one algorithm SNV, indel, SV, and CNV detection providing superior speed, sensitivity, and precision.
Smith, S. D., Kawash, J. K., & Grigoriev, A. (2017). Lightning-fast genome variant detection with GROM. GigaScience, 6(10), 1–7. doi:10.1093/gigascience/gix091