The researchers deeply sequenced five head and neck squamous carcinomas, four lung squamous carcinomas, and one colorectal adenoma.

A landmark study harnesses long-read sequencing to reveal vast, previously undetected structural variations in human DNA, reshaping our understanding of genetics and disease potential. Study: ...

Structural variants (SVs) are alterations in the DNA sequence that involve large-scale changes, typically longer than 50 base pairs. Advances in long-read sequencing have significantly increased ...

Researchers have significantly expanded the catalogue of known human genetic variation. The resulting datasets, shared in two back-to-back publications in the journal Nature, constitute what may be ...

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 transforming the landscape of genomic research, offering exceptional resolution and accuracy in the analysis of complex genetic structures. From research in genetic analysis to ...

Retrotransposons are pivotal in human genome evolution, driving structural variation and regulatory innovation while influencing health and disease.

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.

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 ...