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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 […]

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 […]

Phenotypic refinement critical in exome interpretation

A recent study published in Genetics in Medicine explored the importance of refining phenotypic information for more effective exome data […]

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 […]

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 […]

Opportunistic Genomic Screening: How much do we really want to know?

When an individual undergoes genomic screening, the opportunity arises to further review their genomic data in the future. This is […]

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 […]

Genomics week in brief: Week ending 24th October

Yet again here at Front Line Genomics we have summarised the latest updates and genomics news from the past week […]