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 ...

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 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 ...

Researchers use long-read genome sequencing to discover 33% more structural variants and 38% more tandem repeats linked to autism spectrum disorder.

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 ...

PacBio’s Revio system and SPRQ-Nx chemistry to enable an order-of-magnitude expansion of HiFi metagenomic sequencing for ...

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 ...

Baylor Genetics, a leading diagnostic genomics partner offering a full spectrum of clinically relevant genetic testing, today announced enhancements to its Whole Genome Sequencing (WGS) test with the ...

STOmics' solutions are highly compatible with MGI's patented DNBSEQ sequencing platform, for instance, Stereo-seq libraries are sequenced using MGI's flagship G400 and T7 platforms, ensuring ...

Researchers at EMBL’s European Bioinformatics Institute (EMBL-EBI) have developed a new machine learning method called SAVANA that significantly reduces sequencing errors for cancer genomes. Long-read ...