Structural genetic variants include large (>50 base pairs) duplications, inversion, translocations or deletions. Recent advances in long-read sequencing and optical genome mapping, combined with more ...

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

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 ...

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 ...

Genome assemblies from 65 individuals, representing a variety of the world’s populations, are advancing the scientific exploration of complex genetic structural variation. Structural variations are ...

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 ...

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 ...

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 ...

Robertsonian chromosomes are large chromosomes that form when the long arm of a chromosome breaks and fuses with another chromosome. They are the most common type of chromosome rearrangement in humans ...

Recent advances in genome sequencing have improved all aspects of uncovering the human genome. One of the unlocked areas includes variant calling, or identifying and cataloging genetic variations, ...

Sequencing nearly half a million genomes, researchers show that most additive genetic influences on height, lipids, and other complex traits are now directly measurable, while pinpointing ultra-rare ...