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, ...

Tata Institute for Genetics and Society, Gandhi Krishi Vignana Kendra Campus, Bengaluru, Karnataka, India Neuromuscular genetic disorders (NMGDs) are genetically and clinically diverse group of ...

MuSA (Multi-Source variant Annotation) is a Nextflow pipeline designed for large-scale, multi-tool variant annotation and interpretation in clinical and research genomics. It automates the integration ...

Background Improving the precision and accuracy of variant classification in clinical genetic testing requires further specification and stratification of the American College of Medical ...

Conclusions: This study demonstrates the power of a disease-specific PE-ACMG variant classification framework to substantially reduce the VUS burden. Although promising in CPVT, future studies are ...

The American College of Medical Genetics and Genomics (ACMG) has released its highly anticipated 2025 update to the recommended minimum gene list for the reporting of secondary findings (SF) in ...

A landmark study reveals that decades of elite rowing and genetic predisposition combine to dramatically elevate arrhythmia risk, highlighting why not all heart risks in athletes are created equal.

Leiden, the Netherlands, June 24, 2025: Pharming Group N.V. (“Pharming” or “the Company”) (EURONEXT Amsterdam: PHARM/Nasdaq: PHAR) announces it will host a webcast for investors and analysts featuring ...

Researchers identified variants which may cause activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS) Results enable clinical genetic testing labs to appropriately reclassify VUSs, ...

A new Covid variant is being kept under surveillance by the World Health Organization (WHO) as its emergence has led to an increase in infections in several regions of the world. First identified at ...