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Nanopore sequencing combined with liquid biopsy analysis

A recent study, published in Clinical Chemistry, has presented a rapid nanopore genotyping strategy to enable amplification-free identification and classification […]

On the horizon: In situ sequencing

Advancements in technologies, including single cell and spatial transcriptomics, have provided us with a finer view of our complex biology […]

Early results from the UK Biobank Exome Sequencing Consortium

The UK Biobank Exome Sequencing Consortium has released, as preprint in medRxiv, early results from the exome sequencing data generated […]

Prioritising individuals with disease but low PRS for sequencing

A recent study, published in Genetics in Medicine, has found that prioritising individuals for sequencing who have disease but low […]

Clinical utility of exome sequencing in pregnancy loss

A recent study, published in Genetics in Medicine, has explored the clinical utility of exome sequencing for detecting monogenic aetiology […]

Young people can make informed decisions about genome sequencing

A recent study, published in the European Journal of Medical Genetics, has explored the understanding, attitudes and involvement in decision-making […]

SARS-CoV-2 re-infection confirmed by whole-genome sequencing

Researchers have confirmed a case of re-infection, which suggests that SARS-CoV-2 may continue to circulate among the population despite herd […]

Whole-exome sequencing as a tool to detect inborn errors of metabolism

A study published in Nature Medicine has demonstrated the potential of whole-exome sequencing (WES) in detecting inborn errors of metabolism […]

Biologically-validated AI is how scientists are realising the full potential of single-cell RNA sequencing

The promise of single-cell gene expression data Genomic data are an excellent source of novel disease biomarkers and targets. In […]

A look inside a rapid exome sequencing lab

The ability to sequence a patient’s genome can be an invaluable tool in healthcare, especially as we move towards more […]