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.
Systemic sclerosis (SSc) is a severe autoimmune disease with complex genetic causes. Some genetic contributors have been identified, but others remain unknown, which has impeded development of ...
Genetic testing is becoming an increasingly important component of reproductive health care. It has evolved, over the years, ...
A group of a few dozen colorful translucent 3D blobs, many of which overlap, contain brightly colored dots against a black background. Three-dimensional transcriptomics data from an instrument ...
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 ...
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 ...
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