Background Monogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal ...

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 ...

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 ...

Cucumber is an economically important crop worldwide, ranking as the third most-produced vegetable after tomatoes and onions. Yet breeding improved varieties—plants that are more resilient, produce ...

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 ...

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 ...

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 ...

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, ...