“Achieving highly accurate diagnostics for rare genetic diseases is vital for us in pediatric healthcare. We are very pleased to achieve the significant increase in the diagnostics rate for our methodology using OmniTier’s powerful variant interpretation platform,” said Dr. Tadashi Kaname, Director of Genome Medicine at NCCHD. READ MORE
OmniTier announced that it will be exhibiting at ASHG2024 in Denver, CO between November 5th-9th. OmniTier will be providing demonstrations of its leading on-premise, genomics analysis appliances; CompStor Novos secondary analysis with built in analysis for all major short read and long read sequencers, as well as CompStor Insight variant interpretation.
SAN JOSE, CA. USA, April 18, 2023: OmniTier Inc, a leader in on-premise genomics analysis products, today launched the industry’s first on-premise, standalone appliance for both human genomic data analysis (secondary analysis) and biomedical data interpretation (tertiary analysis), called CompStor Spectrum.
San Jose CA, USA: February 2, 2023 – Benchmark WES re-analysis study with OmniTier’s AI-based variant interpretation platform achieves around a 42% diagnostics rate, a 7% improvement in the average rate for diagnosing rare diseases