The study will make use of Pacific Biosciences' single molecular, real-time sequencing technology and its HiFi "long-read" whole genome sequencing, which can identify genetic variants of rare diseases better than "short-read" whole genome sequencing can, according to the two organizations. In the study, the groups sequenced a cohort of patients to 10x-30x depth of coverage using Pacific Biosciences HiFi long-read technology to assess whether there was an increase in the identification of small and structural variants that are not easily detectable with short-read sequencing technologies.

"With this new technology, we are excited to see how many more of these children and families will receive additional insight regarding the identification of potential disease-causing genetic variants," said Dr. Stephen Kingsmore, president and CEO of Rady Children's Institute for Genomic Medicine.

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