Different new techniques have been introduced in microbiology laboratories during the last years, including mass spectrometry and next generation sequencing. These techniques, in addition to automation, microfludics, nanotechnology and informatics, have impelled innovation in the […]
The phenotypic presentation of retinal diseases is typically underpinned by the presence of genetic variation represented by either polymorphic changes, mutations, copy number variations or epigenetic changes. Retinal dystrophies can broadly be divided into two […]
Personalised medicine tumour boards, which leverage genomic data to improve clinical management, are becoming standard for the treatment of many cancers. This paper is designed as a primer to assist clinicians treating head and neck […]
The U.S. Food and Drug Administration cleared for marketing the Xpert Carba-R Assay, an infection control aid that tests patient specimens to detect specific genetic markers associated with bacteria that are resistant to Carbapenem antibiotics. […]
People who inherit a genetic disorder from one of their parents that results in high cholesterol may be five times more likely to develop coronary heart disease. These patients also may be more likely to […]
A gene which forms part of our body’s first line of defence against infection may be associated with an increased risk with a type of kidney disease, research involving academics at The University of Nottingham […]
Danish researchers have discovered a possible epigenetic link between the environment and pubertal timing. To a large extent, pubertal timing is heritable, but the underlying genetic causes are still unexplained. Researchers have now studied how […]
This review discusses the question: which steps are essential or need to be optimized so that maternal plasma RNA sequencing for pre-eclampsia and related syndromes will become as specific and sensitive as maternal plasma DNA […]
The recent understanding of tumour heterogeneity and cancer evolution in response to therapy has raised questions about the value of historical or single site biopsies for guiding treatment decisions. The ability of ctDNA analysis to […]
The field of single-cell genomics is advancing rapidly and is generating many new insights into complex biological systems, ranging from the diversity of microbial ecosystems to the genomics of human cancer. In this Review, we […]
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