Up to 5% of Americans may carry genetic variants associated with cancer risk, according to a cross-sectional analysis.The ...
Genetic variation is the foundation of human diversity, enabling differences in traits such as height, eye color, or blood type. Some sequence variants also cause inherited diseases, including sickle ...
Scientists at deCODE genetics, a subsidiary of Amgen, reveal today in Nature Genetics associations between bipolar disorder and rare loss-of-function variants in two genes. Bipolar disorder is ...
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 landmark study harnesses long-read sequencing to reveal vast, previously undetected structural variations in human DNA, reshaping our understanding of genetics and disease potential. Study: ...
The planned collaboration highlights the role of complete genome resolution in scaling n-of-1 therapeutic modelsMENLO PARK, Calif., Jan. 12, 2026 (GLOBE NEWSWIRE) -- PacBio (NASDAQ: PACB), developer ...
Novel Gene and Variant Discovery in Human Genetic Disorders: From Coding and Non-Coding RNA variants
Rapid advances in sequencing technologies have transformed our ability to diagnose human genetic disorders, yet many patients still lack a molecular ...
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Opportunistic Cholesterol Gene Screens: Good in Theory Only?
The ROAR trial tested the hypothesis that returning familial hypercholesterolemia-associated genetic results leads to ...
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.
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