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Genomics Week in Brief: Week Ending 29th March

Looking for the latest news highlights from the genomics world and beyond? We’ve got you covered with Week in Brief!

This week, we learned more about genetic links to human disease…

Scientists have identified two mutations linked to a rare platelet disorder, according to a new study (Blood Advances).

Researchers have found over 200 genes linked to either blood pressure or heart rate changes, providing new insights into cardiovascular disease risk (Science Advances).

Researchers have mapped expression quantitative trait loci in different cell types in the lung, leading to better understanding of genetics contributions to pulmonary fibrosis (Nature Genetics).

Whole genome sequencing has revealed several genetic variants linked to cerebral palsy, which was once thought to be caused exclusively by environmental factors (Nature Genetics).

And we have seen associations between genes and the environment…

Data from the All of Us programme has revealed that individuals with a genetic predisposition to obesity need to work harder to obtain the same results from exercise (JAMA Network Open).

Scientists have identified new genetic variants that impact an individual’s smoking habits. The authors hope that the findings could one day contribute to the calculation of polygenic risk scores for smoking behaviours (Drug and Alcohol Dependence).

A study has revealed that individuals with a genetic predisposition to stress sensitivity are more likely to have cardiac events during stressful social or political times (American College of Cardiology).

There have been more updates in oncology…

New research has revealed sex-specific copy number alterations that play a role in various cancer types (Health Data Science).

A large-scale analysis of patient samples has revealed that a gene known to be associated with colorectal cancer is also linked to several other solid tumour types (JCO Precision Oncology).

What else has gone on in the genomics world this week?

A new exome sequencing approach could reduce the number of genetic tests required to diagnose rare disease in children (Genetics in Medicine).

Using data from the Million Veterans Programme, researchers have revealed that the prevalence of men with additional sex chromosomes is higher than previously thought. These men are also at higher risk of other health issues (JAMA Network Open).

A research letter details how ChatGPT-4 has outperformed human physicians at clinical reasoning and diagnosis (JAMA Internal Medicine).

Check out last week’s Week in Brief here.