The most complex engineering of human cell lines ever has been achieved by scientists, revealing that our genomes are more resilient to significant structural changes than was previously thought. The ...

Structural variants (SVs) are the largest source of variations in the human genome and are frequently associated with disease phenotypes. Thus, the identification and characterization of SVs are ...

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 ...

Largescale changes in the genome inherited from parents are significant risk factors for pediatric solid tumors, such as Ewing sarcoma, neuroblastoma, and osteosarcoma, according to a new study. The ...

A new genomic method has enabled multiple people with rare conditions to receive diagnoses that were previously unattainable by identifying complex structural genetic changes that are often missed by ...

Short-read sequencing has helped scientists identify and study genetic variants that increase Alzheimer’s disease risk, for example in the APOE, TREM2, and other genes. Yet these methods fail to ...

Cucumber is an economically important crop worldwide, ranking as the third most-produced vegetable after tomatoes and onions.

Standard laboratory tests can fail to detect many disease-causing DNA changes. Now, a novel 3D chromosome mapping method can reliably reveal these hidden structural variants and lead to new ...

The most complex engineering of human cell lines ever has been achieved by scientists, revealing that our genomes are more resilient to significant structural changes than was previously thought.

Research co-led by King's College London and Sidra Medicine, Qatar, has produced the most detailed map to date of large-scale genetic differences in the Qatari population, providing a clearer picture ...