PacBio has announced its participation in the 1000 Genomes Long Read Sequencing Project, contributing long-read transcriptome data to enhance this significant human genomics initiative. Through ...

PacBio (NASDAQ: PACB), developer of the world's most advanced sequencing technologies, today announced CiFi, a new community-developed method that enables chromosome-scale, haplotype-resolved genome ...

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, ...

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 ...

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 ...

Long-read sequencing is being harnessed to improve the rate of rare disease diagnosis. Researchers at the University of California Santa Cruz (CA, USA) have demonstrated that long-read sequencing (LRS ...

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 ...

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 ...