The Edinburgh Genetics team was thrilled to be part of the European Society of Human Genetics (ESHG) 2024 conference in Berlin in June...

Metagenomic Next-Generation Sequencing (mNGS) combines the offer of detection of early stages of emerging pathogens directly from...

Next-generation sequencing (NGS) represents an efficient and reliable method to evaluate the contribution of both common and rare...

The human leukocyte antigen (HLA) region is one of the most researched parts of the human genome due to the fact multiple vital genes for...

The emerging discipline of proteogenomics arose from the combination of two molecular biology fields – mass spectrometry (MS)-based...

Endometriosis is a gynaecological disease affecting around 10% of women of reproductive age. The main symptoms of endometriosis are pain...

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

egSEQ Technology Whole exome sequencing (WES) and Whole genome sequencing (WGS) have been increasingly adopted as the primary prenatal...

Although Africa is a genetically diverse continent there has not been extensive genetic disease mapping of the continent as there has...

Both athletes and those who exercise for recreation are affected by non-contact muscle injuries which account for a large proportion of...

Chemotherapy is often aggressive and can provoke severe toxicity and adverse drug reactions (ADR). Noticeable differences also exist in...

A human sample sequenced at 0.1x depth using 150 bp reads yields 2.2 million reads corresponding to measurements at 330Mbp. At 0.4x...