Lower Your Sequencing Costs
RTG's Bayesian approach enables the joint analysis of multi-generational and extended pedigree analysis to identify variants present either sporadically or segregating under a variety of inheritance models: de novo dominant, inherited dominant, recessive (homozygous, compound heterozygous) and X-linked.
This comprehensive, joint analysis now makes sequencing a family economically viable. To demonstrate the accuracy, we sequenced the exomes to 60X for a trio, then took the entire pedigree into account when producing variants for the offspring, increasing the sensitivity and specificity metrics even over those of the second parent despite that individual having significantly higher coverage. Importantly, the trio also allows RTG to call de novo variants, using the pedigree to detect Mendelian inconsistency for those calls. Our de novo caller has been optimzed to capture most variants while allowing a minimal number of false positives.
Comprehensive Analysis for the Answers you Need
For customers interested in identifying potentially causative variants underlying a disease or trait, known or suspected to follow a Mendelian pattern of inheritance, RTG delivers more accurate variant detection with less false positives by integrating familiar relationships during the alignment and calling process. Our Bayesian approach enables the joint analysis of multi-generational and extended pedigree analysis to identify variants present either sporadically or segregating under a variety of inheritance models: de novo dominant, inherited dominant, recessive (homozygous, compound heterozygous) and X-linked. Flexibility with respect to family structure and scale allows us to deliver a level of sensitivity that these studies are designed to uncover.
Autosomal Recessives - recursive analytics means faster detection and no post-processing filter means real, actionable variants are not thrown out with the bathwater.
de novo Mutations - leveraging the principles of Mendelian inheritance eliminates incorrect results, resulting in less wasted time and money spent validating.
Compound Heterozygotes - inherited alleles are inferred from parental genomes even at low coverage without the phasing of individual genomes, saving considerable time with no loss of compound het sensitivity
A New Better Technology for Results When You Need Them.
RTG's patented alignment and variant calling technology uses known human polymorphism rates, sequencing platforms error profiles and is "haplotype-aware" to make correct calls for SNPs, MNPs and indels. When family information is available, our caller jointly analyzes individuals across a pedigree, testing the Mendelian segregation hypothesis. This has the effect of down-scoring variants that violate Mendelian segregation, reducing false positives, and reducing heterozygote undercalls in subjects where allele evidence is poor, but also reduces false negatives by up-weighting variants in a family member consistent with the laws of Mendel. The resulting benefit of RTG's sensitivity and specificity is enormous.
RTG's core technology is faster. And no, you don't need to purchase a compute appliance to use RTG. But at our core is a statement on accuracy. We deliver greater sensitivity and specificity than alternative platforms despite the speed advantage:
RTG Family delivers a 7X improvement in accuracy as measured by the Mendelian error rate when compared to the next best pipeline, and over 40X speed improvement to the other pipelines we investigated. They deliver this accuracy while maintaining ~6x as many potential variants per error. And it performs the analysis at rates that are ~7X faster than the other pipelines.
Local or Cloud. It's your call.
Our philosophy is to move the analytics to your data, not the other way around. While this helps minimize latency and data transfer cost, it also keeps the data where you need it and in compliance with your security requirements. Requiring no hardware purchase, we offer both local "imbedded" pipelines that can be run behind your firewall, and off premises cloud-based pipelines that run in Amazon or can be hosted as a service. You tell us which setup is optimal and we'll take care of the rest.