NEW YORK (GenomeWeb) – Fabric Genomics today disclosed several ongoing and new partnerships related to pediatric clinical genomics.
The partnerships, with Rady Children’s Institute for Genomic Medicine (RCIGM), the Utah Genome Project (UGP), and Genomics England’s 100,000 Genomes Project, aim to provide fast and accurate identification of pediatric disease-causing variants to improve clinical care for children, Fabric said.
Separately today, Fabric and Edico Genome announced a partnership to combine their respective technologies for secondary and tertiary analysis of next-generation sequencing data.
The RCIGM uses whole-genome sequencing to identify disease-causing genes in critically ill newborns who are hospitalized and in neonatal and pediatric intensive care units. As of September 2017, 34 percent of the children sequenced at RCIGM receive a diagnosis, and of those, 81 percent receive a change in clinical treatment.
Fabric said that the institute has been using its Opal Clinical interpretation software alongside Edico’s Dragen platform to achieve ultra-fast variant calling. After a successful collaboration through the RCIGM partnership, the companies today announced a formal partnership to bundle their platforms.
Meanwhile, Fabric also noted that the UGP is using Opal Clinical to aid in its large-scale genomic sequencing studies of families to uncover genetic causes of disease and drug response. The UGP is currently conducting more than 50 research projects, including the genetics of autism, pediatric cardiovascular defects, pediatric liver diseases, and amyotrophic lateral sclerosis. The program has analyzed approximately 27,000 individuals spanning 5,404 kindreds and 89 different projects over the past two years.
Finally, Fabric said that its Opal Clinical platform has thus far been used to deliver more than 1,200 clinical reports for the 100,000 Genomes Project, which includes a large pediatric population. These reports have identified candidate causal genes, powered by its VAAST and Phevor ranking algorithms, which enable turnaround times of less than one week for each case, on average, the company said.
The UGP and Fabric are also collaborating with FDNA to integrate that company’s Face2Gene technology into studies. Face2Gene uses next-generation phenotyping, including facial analysis, to detect disease-related features that can help highlight associated gene variations that cause disease, especially in children.