One Variant, Two Names: How a Numbering Quirk Obscured the Alzheimer’s Risk Gene
A case report describes how a protein numbering discrepancy caused the well-known APOE ε4-defining variant rs429358 to be misclassified as ...
Tag: variant interpretation
New Dashboard Brings Protein Structure Into the Hunt for Disease-Causing Gene Variants
Researchers have developed ProtSAVI, an R-based dashboard that combines protein structure analysis with ACMG/AMP criteria to reclassify variants of uncertain ...
Three NHS Genetics Labs Fail to Share Variant Data Vital for Rare Disease Diagnosis
A BMJ investigation finds that three of England's seven NHS genetics laboratories are failing to routinely submit genetic variants to ...
Misfolded Proteins May Explain a Hidden Share of Inherited Deafness
A large-scale computational study finds that protein misfolding may underlie a substantial share of hereditary hearing loss, reclassifying tens of ...
Silent No More: Hidden PROS1 Mutations Drive Dangerous Blood Clotting Disorder
A new study shows that synonymous PROS1 variants once considered harmless can cause Protein S deficiency through aberrant splicing and ...
New Web Tool Helps Geneticists Pick the Right CADD Score Threshold for Every Gene
Researchers in Berlin have launched CADD-ThresholdApp, a free interactive web tool that uses ClinVar data to help geneticists calibrate CADD ...
Is CBL Really a Melanoma Driver? Variant Interpretation Under Scrutiny in Stage II Disease
Pathologists challenge the designation of CBL as a new driver gene in stage II melanoma, arguing that variant reporting gaps ...
New database turns lab-scale gene tests into clinical evidence for uncertain variants
A new interface called MaveMD translates large-scale variant effect experiments into calibrated clinical evidence, enabling classification of 75 percent of ...
-
Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
-
University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
-
Bee body mass, pathogens and local climate influence heat tolerance
-
Researchers record first-ever images and data of a shark experiencing a boat strike
-
Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
Embark on a thrilling journey of discovery with Scienmag.com—your ultimate source for cutting-edge breakthroughs. Immerse yourself in a world where curiosity knows no limits and tomorrow’s possibilities become today’s reality!