top of page


Exciting Times at ESHG 2024 in Berlin
The Edinburgh Genetics team was thrilled to be part of the European Society of Human Genetics (ESHG) 2024 conference in Berlin in June...
Jun 16, 2024


Next-generation sequencing role in pharmacogenetics and pharmacogenomics
Next-generation sequencing (NGS) represents an efficient and reliable method to evaluate the contribution of both common and rare...
Apr 3, 2024


Working with the University of Gdansk in a landmark HTAD Treatment Trial
Marfan syndrome is a genetic disorder that affects the body's connective tissue, which provides strength, support, and elasticity to...
Apr 1, 2024


The link between proteogenomics and the advancement in precision medicine
The emerging discipline of proteogenomics arose from the combination of two molecular biology fields – mass spectrometry (MS)-based...
Sep 14, 2023


Genome-first approach to mendelian cardiovascular disease
Since the 1990s cardiovascular genomics has been a popular area of research, heading toward a genome-first approach to the diagnosis and...
Aug 27, 2022


Uncovering variants by utilising WES on HIV-positive population in Botswana
Although Africa is a genetically diverse continent there has not been extensive genetic disease mapping of the continent as there has...
Aug 27, 2022


Chemotherapy, radiotherapy and adverse drug reaction mitigation using NGS
Chemotherapy is often aggressive and can provoke severe toxicity and adverse drug reactions (ADR). Noticeable differences also exist in...
Aug 23, 2022


The role of egSEQ Exome in the research and diagnosis of Parkinson’s diseases
Neurology researchers are utilising our market-leading egSEQ library preparation and Exome solutions to understand genetic risk factors...
Aug 23, 2022


Access to genetic testing and the role of effective genetic counselling
Although it is widely accepted that genetic testing is an important tool to aid early diagnosis in some patient cohorts, studies have...
Aug 22, 2022


NGS testing for CYP gene and variation in drug responses
Among the most researched pharmacogenes is the CYP gene superfamily (Fukunaga et al., 2021), which influences drug-metabolising enzymes...
Aug 22, 2022


Oncology targeted therapy with egSEQ NGS
Personalised diagnostic and precision medicine for cancer patients involves tailoring each patient’s treatment based on the genomic...
Aug 22, 2022


Recurrence monitoring of colorectal and breast cancer patients with egSEQ Comprehensive Solid Tumour
With the continuous discovery of genetic targets correlated with recurrence risk, time to recurrence (TTC) and/or overall survival, it is...
Aug 22, 2022
bottom of page