Hereditary cancer risk assessment is a rapidly advancing field, driven by the need for comprehensive variant detection, streamlined genomic workflows, and alignment with evolving guidelines. In the UK ...

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, ...

Structural variations (SVs)—large-scale changes in DNA sequence—play a crucial role in shaping traits such as yield, quality, and environmental adaptation in crops.

Researchers have identified a variant in the gene TBX1 as key in the development of the unique morphology at the base of the skull. TBX1 is present at higher levels in humans than in closely related ...

Structural variations (SVs), including insertions, deletions, inversions, and substitutions, can profoundly influence gene ...

Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...

Variant Bio, a genomics-driven AI drug discovery company, today announced the launch of Inference, the world's first agentic genomic drug dis ...

At ASHG, an early access customer from the London Health Sciences Center Research Institute will demonstrate the power of the 5-base genome for accelerating resolution of rare disease cases ...

Up to 5% of Americans may carry genetic variants associated with cancer risk, according to a cross-sectional analysis.The ...