Horizon is a rapid whole genome analytic platform that annotates, classifies, and interprets variants in relation to patient phenotypic data. The platform serves as a complete solution for rare genetic disorders and cancer genomes. The intuitive user interface integrated with sophisticated artificial intelligence algorithms and proprietary genomic and clinical databases to interpret the genome for clinical diagnosis and interventions.

Recently multiple clinical institutions have initiated collaborative research with GenomeArc Inc., to validate the sensitivity and specificity of variant pathogenicity classifications using large population scale clinical genome datasets. Collaborative study includes clinical genome cohorts from The Hospital for Sick Children, Toronto, Canada; Newcastle Brain Bank, UK; NeuroGen Healthcare, Dhaka, Bangladesh. Whole genome cohorts include thousands of patients diagnosed with numerous rare developmental disorders where genetics plays a major role.

Recently multiple clinical institutions have initiated collaborative research with GenomeArc Inc., to validate the sensitivity and specificity of variant pathogenicity classifications using large population scale clinical genome datasets. Collaborative study includes clinical genome cohorts from The Hospital for Sick Children, Toronto, Canada; Newcastle Brain Bank, UK; NeuroGen Healthcare, Dhaka, Bangladesh. Whole genome cohorts include thousands of patients diagnosed with numerous rare developmental disorders where genetics plays a major role.

The validation will be rolled out in multiple phases and publications to assess Horizon’s ability to infer variant pathogenicity and mine phenotypic details for patients with pre and post diagnosis for rare genetic diseases. According to the World Economic Forum, at least 1 in 17 individuals are impacted with a rare genetic disease and there 6-7000 identified known rare genetic disorders. Most of these disorder databases do not have comprehensive phenotypic details. Horizon is equipped with sophisticated NLP modules to analyze phenotypic data to bring unprecedented details on differential diagnosis. Mohammed U Dafil, Founder of GenomeArc said “Collaborations from multiple clinical institutions provides an unique opportunity to assess Horizon’s sensitivity and specificity on ethnically diverse cohorts.”