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 ...

The cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human DNA by first breaking it into small pieces—short reads. Christian Gilissen, ...

Subtle disruptions in noncoding genomic regions frequently drive Mendelian diseases by altering chromatin architecture, regulatory activity, and other molecular pathways. However, most chromatin ...

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 ...

A new Northwestern Medicine study published in the Proceedings of the National Academy of Sciences has explored the impacts ...

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 ...

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 ...

A research team led by Professor Tong Zhang from the Department of Civil Engineering of Faculty of Engineering at the University of Hong Kong (HKU) has developed a computational tool, Argo, designed ...

Illumina dominates genomics sequencing with recurring growth, NovaSeq X catalysts, and improving margins/FCF. Click to know ...