Mobile Menu

Search Results

Search results for: Genetic Variants

Exome sequencing data from UK Biobank links protein-coding variants to health

A massive effort using exome sequencing data from more than 450,000 UK Biobank participants has revealed rare and common gene […]

AI has been used to rapidly diagnose critically ill patients with rare genetic diseases

Recently, researchers used Fabric GEM, an artificial intelligence algorithm, to detect disease causing variants in newborns and rare disease patients […]

Can we be genetically predisposed to psychiatric disease and addiction?

A recent study, published in NeuroResource, has used single-nucleus transcriptome analysis to identify cell-type-specific molecular signatures in the brain that […]

Researchers identify a genetic cause of endometriosis

Endometriosis affects 1 in 10 women worldwide. The current therapies for this condition are limited and tend to focus on […]

Down the Rabbit Hole: Genetics and Obesity – Giles Yeo

Giles Yeo is a Principal Research Associate at MRC Metabolic Diseases Unit and the Scientific Director of the Genomics/Transcriptomics Core […]

Researchers identify candidate variants related to Alzheimer’s disease

In a recent study, researchers identified 11 rare genetic variants related to Alzheimer’s disease through high-risk pedigree studies. Alzheimer’s disease […]

A substantial genetic contributor to loss of Y chromosome and type 2 diabetes

Researchers have identified loss-of-function GIGYF1 variants that contribute more to the risk of loss of Y chromosome and type 2 […]

Constructing the human genetic architecture of COVID-19

In an early manuscript, the COVID-19 Host Genetics Initiative has reported 13 human genomic loci that are significantly associated with […]

Obsessive-compulsive disorder (OCD) has been linked to genetic mutations

A genome-wide study has identified potential risk genes that are associated with obsessive-compulsive disorder (OCD), confirming the validity of using […]

The genetic timeline of hospital superbug

Researchers at the Sanger Institute and their collaborators have explored, for the first time, the full evolutionary journey of hospital […]