Scientists have found that a special component in some people's blood provides them with natural protection against malaria. A recent study has demonstrated that a genetic variant named rs112233623-T ...

A new synthesis finds that common epilepsies are driven by thousands of tiny-effect genetic variants, most still ...

Researchers at the University of California San Diego have identified new genetic variants associated with autism spectrum ...

New research assessing the efficacy of optical genome mapping (OGM) in a group of patients with acute leukemia has ...

A doctor who had a genetic condition that prevents teeth from forming searched for the DNA mutation that had affected his family for over 150 years.

A genome-wide AI model prioritizes three genetic variants linked to postoperative sepsis and outlines how preoperative ...

Rapidly testing hundreds of thousands of DNA sequences, scientists identified specific genetic variations contributing to blood pressure, cholesterol, and blood sugar.

A novel genetic variant may be a driving force behind the development of metabolic dysfunction–associated steatotic liver disease (MASLD) in some cases, according to researchers at the Mayo Clinic in ...

A systematic review of 52 scientific papers submitted to a world-leading clinical genetics journal from multiple scientists ...

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 ...

Genetic risk models, including PREMMplus and BOADICEA/CanRisk, refine breast cancer risk assessment by incorporating genetic status and polygenic risk scores. Challenges in classifying gene variants, ...

For more than 15 years, a pulmonologist has tried to understand the random path of devastation that a rare genetic condition carves through the families it affects. Scientists compared five families ...