Mobile Menu

Search Results

Search results for: Genetic Variants

Rare neurodevelopmental disorder associated with SATB1 dysfunction

A recent study has reported on three classes of mutations within the gene SATB1 which result in three variations of […]

Genomic Sequencing to Explain New Rare Diseases

Determining the genetic basis of rare diseases is important for counselling and for developing our understanding of disease pathogenesis. While […]

New method improves portable DNA sequencer accuracy

Researchers have found a simple way to remove nearly all sequencing errors produced by a widely used portable DNA sequencer. […]

Making a murderer: How African Salmonella jumped from gut to bloodstream

Scientists at the University of Liverpool have harnessed the combined power of genomics and epidemiology to understand how a type […]

Round-up: COVID-19 December 2020 (Part One)

The MHRA has just announced regulatory approval for the first UK COVID-19 vaccine, providing hopes for a speedy roll out […]

Genomics week in brief: Week ending 28th November

A lot can happen in a week! But don’t worry we’ve got you covered with the latest round-up of the […]

Early results from the UK Biobank Exome Sequencing Consortium

The UK Biobank Exome Sequencing Consortium has released, as preprint in medRxiv, early results from the exome sequencing data generated […]

On the Cusp of Future Gene Therapies

Gene therapy is at an inflection point. Many gene and cell therapies have been approved in recent years following decades […]

The Forefront of Genomics

Here we summarise a recent perspective, published in Nature, that has outlined the highest-priority elements in NHGRI’s vision for improving […]

African genomes: Insights into human migration and health

Using whole-genome sequencing, researchers have explored the breadth of genomic diversity across Africa, gaining further insight into human migration and […]