GenomeWeb: Clinical Long-Read WGS Challenges, Abilities Highlighted in New Study
By Andrew P. Han
Clinical long-read whole-genome sequencing offers the potential to replace other diagnostic methods for suspected genetic disease, according to a new study from researchers at Children's Mercy Kansas City.
On Monday, researchers led by Tomi Pastinen published data in JAMA Pediatrics comparing long-read WGS to a basket of other methods, including panels, cytogenetics, microarrays, and exome sequencing. The results are the first to be published since Children's Mercy validated a WGS test based on Pacific Biosciences' HiFi sequencing method.
The study analyzed 235 cases using long-read WGS and compared those results to 513 historical matched control cases selected on the basis of indication, age, and sex. Their test increased diagnostic yield to approximately 37 percent, compared to 27 percent for all other methods. Time to diagnosis averaged 27 days, compared to 62 days for the other methods, while time to a negative result was 29 days, compared to 91 days.
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