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 ...

SAVANA uses a machine learning algorithm to identify cancer-specific structural variations and copy number aberrations in long-read DNA sequencing data. The complex structure of cancer genomes means ...

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

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 ...

Researchers at the University of California San Diego have identified new genetic variants associated with autism spectrum disorder (ASD) by using long-read whole genome sequencing (LR-WGS), an ...

Despite rapid advances in genome and exome sequencing, many individuals with rare diseases remain undiagnosed. In a Perspective article published in Nature Genetics, researchers at Karolinska ...

Short-read RNA-seq provides robust gene-level expression but is limited in resolving full-length transcripts and splice variants. Long-read sequencing addresses these limitations by capturing complete ...