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 ...

Structural variants (SV) that give rise to tyrosine kinase (TK) fusion genes are seen recurrently in myeloid neoplasms, specifically chronic myeloid leukaemia (CML), which is defined by the presence ...

Transposable elements (TEs) form 50% of the mammalian genome sequence, and their expression contributes to processes from development to disease. Owing to the abundance and high sequence similarity of ...

Long-read sequencing technologies analyze long, continuous stretches of DNA. These methods have the potential to improve researchers' ability to detect complex genetic alterations in cancer genomes.

In just a few decades, DNA sequencing technologies evolved from slow, manual processes to rapid, automated ones, making ...

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 ...

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 ...

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

When we think of parasites, we picture ticks or worms. But lurking inside our own genomes are far stealthier hitchhikers: jumping fragments of human DNA that behave like genetic parasites and can ...

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 ...

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 ...