The Newborn Genomes Programme: Genomics England answers your questions
Questions submitted by participants in a recent Progress Educational Trust event are answered by Genomics England...
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.
109 articles
Single mutation discovered may be genetic cause of lupus
A novel mutation in a gene called TLR7 has been identified as directly linked to the development of lupus...
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.
NHS trial evaluates whole genome sequencing for brain tumour patients
Whole genome sequencing is being used to offer brain tumour patients personalised treatment in a first-of-its-kind NHS trial...
Largest dataset of cancer whole genome sequences gives new insights
An analysis of the whole genome sequences of around 12,000 patient tumours has revealed new mutational signatures in their DNA...
TV Review: Shining a Light on Rare Conditions
Shining A Light On Rare Conditions', the documentary created by ITN Productions with Genetic Alliance UK in celebration of Rare Disease Day 2022, is probably long overdue...
Whole Genome Sequencing at Birth: Workforce Implications for Healthcare Professionals and Beyond
This event was the last in a five-part series hosted by the Progress Educational Trust. Included for discussion were the impact of whole genome sequencing at birth on the healthcare workforce in the UK, how to manage consent and data, and the risks and benefits…
100,000 whole genome sequences made available to US researchers
The National Institute of Health's new All of Us study has released nearly 100,000 genome sequences, half of which are from people who identify as black or African American, hispanic or latino, and Asian...
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.
Podcast Review: The G Word – David Bick, newborn sequencing
The podcast series 'the G word', which is produced by Genomics England, has a mission statement to 'bring the benefits of genomic medicine to everyone'...
Whole genome sequencing could help diagnose expansion repeat neurological disorders
Whole genome sequencing has proven a reliable diagnostic technique for 13 inherited neurological disorders, paving the way for more rapid diagnoses via the NHS...
Whole Genome Sequencing at Birth: Genomic Data, a Resource from Cradle to Grave?
Genomics England's Newborn Genomes Programme is a pilot study exploring the potential benefits, practicalities, and challenges of offering whole genome sequencing (WGS) for all newborn babies...