Having recently published a paper on gene.iobio, we are excited to announce a publication describing the clin.iobio tool as part of the Journal of Personalized Medicine's Special Issue on Precision Medicine in Clinical Practice. Clin.iobio has been developed by the iobio team in Prof. Gabor Marth's lab at the University of Utah, with collaboration from Frameshift. Clin.iobio has been built to integrate multiple applications into a single diagnostic workflow, comprising; data quality review; gene list generation using genepanel.iobio; variant prioritization and interrogation with gene.iobio; and finally a findings page summarizing the identified variants.
The publication highlights an example case of a newborn with a fetal akinesia sequence phenotype that underwent rapid whole genome sequencing along with his parents. The identified compound heterozygous variants in the LGI4 gene were considered diagnostic by the analysis team, in part based on the classification of one these variants as "likely pathogenic" in ClinVar and associated with “arthrogryposis multiplex congenita” and “fetal akinesia sequence” - the most objective phenotypes for the patient. The newborn was ultimately moved to palliative care, sparing them from further invasive procedures.
Clin.iobio is integrated into Mosaic allowing users to launch the tool for any samples, pulling in the underlying BAM/CRAM and VCF files for analysis, as well as any saved gene or variant sets. Mosaic users can easily store results (e.g. prioritized variants) from custom tools (e.g. Slivar) in Mosaic. The Clin.iobio integration then allows them to interrogate these variants, and variants in genes associated with provided HPO / clinical terms in an easy-to-use visual environment.