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Search results for: Genetic Variants

T cell activation experiment boosts search for immune disease treatments

In a first-of-its-kind experiment, researchers have identified links between 127 genes and immune diseases. The study provides new insights into […]

Moving Polygenic Risk Scores into the Clinic

Genetic testing is widely used to diagnose monogenic diseases that are caused by mutations in a single gene, such as […]

Scientists Pit Variant Prediction Platforms Against Each Other in Head-to-Head Study

Written by Kirsty Oswald, Science Writer  Researchers have assessed which computational methods and platforms have the strongest performance for predicting […]

Translating Germline Cancer Genomics into Precision Prevention of Cancer

It is well known that early detection and monitoring of cancer greatly improves patient prognosis. However, specific interventions are only […]

GWAS identifies new acne risk genes

A genome-wide association study (GWAS) of acne has identified 29 regions of the genome that influence the condition. Acne vulgaris […]

Deep learning model identifies patients with mental disorders

A new study, published in the journal Molecular Psychiatry, has developed a deep learning model that is able to genetically […]

Genomics week in brief: Week ending 29th January

We have summarised some of the latest news and research across the genomics space – enjoy! Top stories from the […]

Mitochondrial DNA levels may underlie human diseases

A new study, published in eLife, has identified mitochondrial DNA levels as a potential biomarker of diseases such as cancer […]

The low portability of polygenic scores using UK Biobank data

Using data derived from the UK Biobank, researchers have found that polygenic scores have low portability between genetic populations. Polygenic […]

The relationship between DNA methylation and disease

By carrying out a genome-wide association study, researchers have uncovered novel mechanisms linking DNA methylation and disease. Their findings greatly […]