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Long-read sequencing revolutionizes diagnosis of rare diseases

One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid increases in genetic technology and testing. Even when a person does have ...
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Long-Read Sequencing Pinpoints Genetic Basis for Psychiatric Diagnosis in Pediatric Case

Researchers at Rady Children’s Institute for Genomic Medicine (RCIGM) in San Diego have successfully applied long-read genome sequencing to reveal the genetic underpinnings of complex psychiatric ...
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PacBio and Radboud UMC Announce Remarkable Study Results Using HiFi Long Read Sequencing to Help Advance Rare Disease Diagnostics

MENLO PARK, Calif., Jan. 14, 2025 (GLOBE NEWSWIRE) -- PacBio (PACB), a leading provider of highly accurate long-read sequencing solutions, announced a significant publication from Radboud University ...
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PacBio’s HiFi Sequencing Technology Shows Promising Results for Rare Disease Diagnostics in Collaboration with Radboud University Medical Center

PacBio announced a key study published in the American Journal of Human Genetics by Radboud University Medical Center, showcasing the effectiveness of its HiFi long-read sequencing technology for ...
Science Daily

Long read sequencing reveals more genetic information while cutting time and cost of rare disease diagnoses

A new study shows that long-read sequencing has the potential to improve the rate of diagnosis while reducing the time to diagnosis from years to days -- in a single test and at a much lower cost. One ...
GEN

Long-Read Nanopore Sequencing Improves Rare Disease Diagnosis

Whole genome sequencing (WGS) is not necessarily a solution for someone with a rare, monogenic disease. Indeed, more than half of families with suspected rare monogenic diseases do not have an answer ...
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New DNA technology could help identify rare pediatric diseases

Please provide your email address to receive an email when new articles are posted on . Researchers identified new sites in the placenta where genomic imprinting occurs. This could find previously ...
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PACB Stock Declines Despite Promising HiFi Sequencing Findings

Pacific Biosciences of California, Inc. PACB recently announced a significant publication from Radboud University Medical Center (Radboudumc) and its research partners in the American Journal of Human ...