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 ...

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 ...

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 ...

Haoyu Cheng, Ph.D., assistant professor of biomedical informatics and data science at Yale School of Medicine, has developed a new algorithm capable of building complete human genomes using standard ...

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 ...

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 ...