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...
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Apr 5
Using metagenomic sequencing to evaluate the composition of microbiome in patients with Covid-19
Metagenomic Next-Generation Sequencing (mNGS) combines the offer of detection of early stages of emerging pathogens directly from...
Apr 3
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...
Jan 22
NGS in clinical histocompatibility testing
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...
Sep 13, 2023
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...
Aug 27, 2022
Genetic research and diagnosis of Endometriosis
Endometriosis is a gynaecological disease affecting around 10% of women of reproductive age. The main symptoms of endometriosis are pain...
Aug 27, 2022
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
WES and WGS as Cost-Effective Prenatal Tests
egSEQ Technology Whole exome sequencing (WES) and Whole genome sequencing (WGS) have been increasingly adopted as the primary prenatal...
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 23, 2022
Genetics and physical fitness
Both athletes and those who exercise for recreation are affected by non-contact muscle injuries which account for a large proportion of...
Aug 23, 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 utility of low-depth Whole Genome Sequencing (WGS)
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...
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