We are proud to announce that the gene.iobio paper has been published in Nature Scientific Reports. This tool has been developed at the University of Utah, with significant contribution from Frameshift co-founders. As genomic data is increasingly being used to aid in disease diagnostics, there is a growing need for easy-to-use tools to enable diagnosticians to interpret complex or uncertain genomic findings. Gene.iobio is a real-time, intuitive, and interactive web tool designed to make genomic data accessible to a wide range of users in a variety of settings. The paper shows how gene.iobio was used to establish the likely causative genetic variant in a young boy whose primary objective finding was dysgenesis of the corpus callosum with retrocerebellar fluid collection, laryngeal cleft, cryptorchidism, proximal projections from 2nd metacarpals bilaterally, and non-familial facial profile with ear pits, unusual scalp hair pattern, and abnormal transverse palmar creases. The paper further demonstrates how a clinical team was able to use the aggregation of data visualized in gene.iobio to refute a computationally prioritized X-linked recessive missense variant in a second patient.
Gene.iobio is integrated into Mosaic so that all samples, or nuclear families, can be studied at the click of a button. Mosaic allows gene.iobio analyses to be saved and shared with team members, promoting effective collaboration. To learn more, see the Mosaic tutorial .