Complex Disease

Real Time Genomics delivers the ability to jointly analyze large case v. control and population scale research projects accurately and efficiently, calling rare variants at low minor allele frequency with high sensitivity.

Genome-wide disease association studies searching for common or more rare variants influencing common diseases, as well as large human population genetics studies has shifted en mass to sequence-based approaches. As large studies encompassing hundreds or even thousands of samples of cases and controls are undertaken, more robust and cost-effective analytics are necessary.

Fast and scalable population handling

RTG jointly analyzes large case v. control and population scale research projects at speeds an order of magnitude faster than open source software. The population variant caller's speed and modest computer requirements allows to analyze samples iteratively, either fine tuning parameters, or adding more sample data as it becomes available to improve accuracy across all samples and provide consistent calls for SNVs, indels, and MNPs across the entire cohort.

Leveraging panels of reference samples

While joint calling of exome or whole genome data from cohorts improves quality, when the population samples become large the computational demands for calling grow. In order to leverage previously sequenced panels of reference samples in the calling of new samples (N+1), rtgVariant offers an innovative and very efficient solution, requiring only the previous calls of the reference panel as a slimed multisample VCF to be used as site specific priors and in the HWE maximization step of the population calling algorithm.  This delivers the accuracy benefits of joint calling with the execution time of single samples, a solution that only rtgVariant provides.