Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
BioNews
Whole Genome Sequencing (WGS)
Determining the order of every base in an organism's genome. Differs from genotyping, which only looks at a specific subset of genetic variants.
110 articles
Remarks from the Fertility Regulator
The sixth session of 'What Does Genomics Mean for Fertility Treatment?' – the 2025 Annual Conference of PET – saw Julia Chain, chair of the HFEA, give a concluding keynote presentation...
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
Low variation found in Haemophilus influenzae genomes
Genomic variation focusing on antibiotic resistance of Haemophilus influenzae has been categorised on a global scale...
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
Rare Disease Genomic Testing: How Do We Make Access Equitable and Timely?
The latest event from PET brought together professionals and patient voices to explore how best to improve access to genetic and genomic testing for rare disease...
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
The Generation Study: changing lives and building the evidence around genomic newborn screening
Genomics could have a transformative impact for newborn screening, explains Amanda Pichini...
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
Rare eye cancer detected by newborn whole genome sequencing
A rare eye cancer, which may have otherwise been missed, has been detected in a newborn baby enrolled in a whole genome sequencing study...
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
Enhanced DNA sequencing finds somatic mutations in twins
An advanced DNA sequencing tool can identify previously undetectable genetic mutations in human tissue with high accuracy...
Image by Sílvia Ferreira, Cristina Lopo and Eileen Gentleman via the Wellcome Collection. Depicts a single human stem cell embedded within a porous hydrogel matrix (false colour).
Rare immune disease treated successfully with personalised gene therapy
A world-first gene therapy has successfully been used to restore the immune system of a teenager with a rare genetic condition...
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
Beyond the helix: will the NHS Ten-Year Plan deliver for people with rare genetic conditions?
Genetic Alliance UK has been reviewing the 168-page document to understand what the Plan means for the 3.5 million people living with genetic, rare, and undiagnosed conditions in the UK...