Mosaic used in new rapid NICU sequencing publication

We’re excited to announce that our collaborative work with the University of Utah NeoSeq Project has been published in Nature: Genomic Medicine (The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit). This project is a multidisciplinary and longitudinal rapid sequencing program in a Neonatal Intensive Care Unit. The team at Utah used Mosaic to support multiple aspects of their project, including: project management, phenotype presentation, variant analysis/interpretation, data quality review and collaboration between team members.

Ultimately, Mosaic helped enable the Utah team to reach a firm genetic diagnosis in 40% (26/60) of their patients and identify a strong candidate variant in an additional 11% (7/65) of their patients. Furthermore, nearly 80% of Utah clinicians considered the genetic findings (positive or negative) useful or very useful - and a number of patients had changes in clinical management based on genetic findings, with 23% receiving additional medical screening. At Frameshift, our mission is to develop genomics software to empower care providers and improve patient’s lives. We look forward to continuing our rewarding work with the NeoSeq project!

Please visit https://frameshift.io/mosaic or reach out to info@frameshift.io if we can help you in your genomic research efforts!