The New York Center for Rare Diseases has partnered with genetic testing and bioinformatics company GeneDx, biotechnology company Pacific Biosciences (PacBio), and Google Health on genetic diagnoses for families in the Bronx living with rare diseases.
A pilot project will perform genomic testing on 50 patient-parent trios to see if PacBio's long-read sequencing can identify genetic alterations. Further, in order to analyze these genomes with PacBio's HiFi DNA and RNA sequencing, GeneDx expects to perform short-read whole-genome sequencing. The genomic data would be returned to Albert Einstein College of Medicine for analysis.
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