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Inova Translational Medicine Institute, Personalis Partner for Diagnostic Genome Interpretation

This article has been updated to reflect the increased size of a study by Inova.

NEW YORK (GenomeWeb News) − The Inova Translational Medicine Institute has teamed up with Personalis for the analysis and clinical interpretation of whole-genome sequencing data from patients with undiagnosed syndromes, the partners said today.

Under the collaboration, ITMI, a non-profit research institute that is part of the Inova Health System, will perform whole-genome sequencing on patients with suspected genetic disease who have not been able to obtain a molecular diagnosis.

Personalis, a Menlo Park, Calif.-based spinout of Stanford University, will analyze and interpret the data to identify genetic causes for the patients' disorders, while ITMI, which is based within the Inova Fairfax Hospital in Falls Church, Va., will use the results to inform patient care.

The collaboration is part of a "large [next-generation sequencing] diagnostic program" at Inova, according to ITMI. "Our partnership with Personalis will enable us to provide the most advanced and clinically appropriate genome analysis and interpretation for our patients,” ITMI CEO John Niederhuber said in a statement.

It was not immediately clear who will perform the sequencing for the program, but in 2011, ITMI contracted with Complete Genomics for a research study on preterm birth that involved sequencing the genomes of 500 children and their parents, a study that has since grown to 1,000 families. Also, last year, Innova ordered 1,000 genomes from Illumina's whole-genome sequencing service.

Personalis has been focusing on the analysis of exome data. Last fall, the company introduced a clinical exome test for the diagnosis of rare Mendelian disorders that includes exome sequencing, enhanced coverage of more than 7,000 important genes and more than 12,000 regulatory regions, and genome-wide structural variation detection.

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