When considering the clinical applications of computational genomics, the true challenge stems from both the nature of the processed genomic data and the purpose behind processing it. The clinical context renders analyses useful only if their results meet rigorously defined standards and can be provided on time. Scalability to tens of thousands of samples is […]
As the volume and depth of genomic data grows, bioinformaticians are translating genomic data into interpretable patterns leading to new biological insight.
The cause of a rare type of familial epilepsy has been linked to two new gene mutations, as discovered by researchers from the Walter and Eliza Hall Institute. Published back-to-back in Nature Communications, Dr Mark Bennett, Dr Haloom Rafehi and Professor Melanie Bahlo from the Institute made this ground-breaking discovery as part of an international consortium.
Despite vast progress in leveraging the CRISPR-Cas9 system for genome manipulation, bottlenecks still remain. Overcoming these bottlenecks is critical to ensure the efficacy of this technology in a clinical context. Several engineering approaches involve inducing a double -stranded break (DSB) to introduce new mutations, which are then repaired by the endogenous cellular machinery. The two […]
Scientists have engineered proteins to form fractal geometric shapes with never-ending patterns, closely resembling those found in nature. The protein patterns could have applications in next-generation biomaterials. Fractal geometric shapes make extremely useful biomaterials as they have large surface to volume ratios, allowing rapid exchange of materials. This makes them ideal for applications both in […]
Scientists have developed tattoos that change colour depending on the interstitial fluid concentration of key biomarkers. The development is a step towards developing quicker diagnostics. The biomarkers studied were pH, glucose and albumin. Variation of blood pH can be indictive of a range of health conditions and glucose sensing is extremely useful for monitoring diabetes. […]
The Digital DNA series will explore the role of large-scale genetic testing in science, industry and society. We aim to understand both the benefits and risks of this emerging technology and see what the future may hold. In the first of our Digital DNA series, we talked to Dr. Peter Ney, a researcher in the […]
It has now been 16 years since the Human Genome Project sequenced the first ever human genome: in that time, as has been mentioned in previous editions of this report, more than 500,000 genomes have been sequenced, generating enough data to drastically raise computational resource usage and create a need for rapid innovation to offset […]
In September 2019, Anglia Ruskin University’s (ARU’s) Cambridge campus will begin the first year of its new – and currently unique in the UK – Data Scientist Degree Apprenticeship for the bioinformatics profession. Ahead of this, ARU and the Wellcome Sanger Institute have set up a “Lunch and Learn” panel event for hiring managers and talent acquisition specialists, looking at how they can best recruit and support top apprentices.
Gene discovery could help pave way for development treatment for hearing loss
Consumers can contribute to medical breakthroughs and get rewarded for sharing health and genomic data while maintaining privacy and control.
AMP 2018: Decoding the Cancer Genome: Breakthrough AI Technology Quickly Identifies Actionable Mutations
Explosive advances in next-generation sequencing (NGS) have greatly improved the ability to identify actionable cancer mutations, both for solid and hematological malignancies, and sparked a new era of oncology care. But accurate analysis and proper interpretation of the complex genomic data produced by NGS remain key hurdles.
Maize is one of the most economically important crops globally and much effort has been spent generating the high quality B73 reference genome. However, the 10 chromosome, 2.3 gigabase (Gb) B73 reference genome was a substantial challenge due to the fact it is comprised of 85% transposable elements, 75% of which are long terminal […]
Genomics England names Congenica as its Clinical Decision Support Service partner for the delivery of the NHS Genomic Medicine Service.