Sometimes, in genetics, two wrongs do make a right. A research team has recently shown that two harmful genetic variants, ...

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, ...

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 ...

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 ...

CLEVELAND, Nov. 7, 2024 /PRNewswire/ -- GenomOncology, an a precision medicine software company, and Genomenon, a leading genomic intelligence company, today announced a strategic partnership aimed at ...

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 ...

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

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