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 ...

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 ...

April 14, 2025 – Genome Research (https://genome.org) publishes a second special issue highlighting advances in long-read sequencing applications in biology and medicine. In this second Special Issue, ...

Here, Aaron Wenger, Principal Scientist – Bioinformatics at PacBio (CA, USA), explores how advances in accuracy, throughput and cost are making long-read sequencing more accessible at scale. Advances ...

Genomic DNA is organized into chromatin via nucleosomes, regulating its accessibility for critical biological processes such as transcription, replication, and epigenetic modification. The dynamic ...

Pharmacogenomics (PGx) provides insights into how genetics affect drug responses. However, short-read panels can struggle to decipher the full depth of the genome. Long-read sequencing can measure ...

Researchers at the University of Kentucky Sanders-Brown Center on Aging are working to develop a pre-symptomatic disease diagnostic tool for Alzheimer's disease. "While the need for better treatments ...

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 ...