Nearly 1 million genomes reveal what an average human genome contains
An analysis of 879,461 adult genomes found approximately 4.3 million to 5.3 million small variants per person, alongside de novo ...
Tag: ClinVar
Case report links compound heterozygous NDUFS1 variants to severe axonal polyneuropathy in an adolescent boy
A single-patient case report associates compound heterozygous NDUFS1 variants with severe axonal sensorimotor polyneuropathy in a boy despite a negative ...
Novel COL6A1 Gene Variant Linked to Rare Muscle Disorder in Child
A novel homozygous COL6A1 variant classified as uncertain has been linked to classic Ullrich congenital muscular dystrophy in a three-year-old ...
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 ...
Rare Neurological Diseases in Children Are Rising Worldwide, First Global Analysis Finds
The first global assessment of rare neurological diseases in children finds rising prevalence and disability from 1990 to 2021, declining ...
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 ...
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Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
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University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
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Bee body mass, pathogens and local climate influence heat tolerance
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Researchers record first-ever images and data of a shark experiencing a boat strike
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Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
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