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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 […]

GEN-COVID study uses whole-exome sequencing to unravel COVID-19 susceptibility

A team of researchers from Italy have identified multiple genetic variants that could play a role in determining the severity […]

Whole genome, whole exome or panel sequencing in precision oncology clinical trials

With a wealth of genomic technologies rapidly advancing with falling cost, implementing genomics into trials and routine care is becoming […]

New single-cell sperm sequencing method uncovers insights into meiotic variation

A new method has allowed researchers at Harvard Medical School to examine variation in meiosis by studying tens of thousands […]