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Week in Brief: Week Ending 8th November

Happy Monday folks! Looking for the latest headline news from the genomics world (and beyond)? Week in Brief has you covered.

A recent study has uncovered how cancer immunotherapy may cause heart inflammation in certain patients. By identifying specific immune responses, researchers hope to minimise this risk and make immunotherapy safer for more patients (Nature).

Scientists have identified rogue tumour DNA segments that can be targeted in treatment. These  DNA elements drive aggressive tumour behaviour, and targeting them could improve outcomes for difficult-to-treat cancers (Nature).

A partnership between Oxford Nanopore and the UK government, alongside UK Biobank, Genomics England and the NHS, has been announced. The initiative aims to advance genomics in healthcare, utilising high-throughput sequencing to enable faster, more accurate diagnostics and personalised treatments across the UK (Oxford Nanopore).

Scientists have developed a new genetic model of breast cancer, which could subsequently help researchers and clinicians understand and treat metastasic disease (Oncogene).

A single gene has been found responsible for a previously unexplained spectrum of developmental conditions. This discovery may lead to targeted therapies to treat the underlying genetic cause of these illnesses (Genetics in Medicine).

A novel tool has been created to decode mutations in mitochondrial DNA, helping to identify those which contribute to disease. This could aid in the diagnosis and understanding of complex mitochondrial diseases (Nature).

A technique to refine genetic discoveries has been introduced, known as hypometric genetics, allowing scientists to effectively handle clinical measurements that fall below the limit of quantification. This could be crucial for the implementation of more effective precision medicine (AJHG).

Additionally, a genetic score has been linked to anti-cancer drug efficacy and resistance, showing how genetic variations can predict patients’ response to treatments, enabling more personalised cancer care (npj Precision Oncology).

Whole genome sequencing combined led to clinical recommendations for more than half of the individuals involved in a recent study. Many cancer patients, who signed up to the 100,000 Genomes Project, benefited from this tailored genomic approach (BJC).

Finally, genetic variant could be the key to distinguishing between aggressive and non-aggressive prostate cancers, meaning patients could receive better tailored treatment (Nature Communications).

Check out last week’s Week in Brief here.