Sanger Science

The human reference genome is the foundation of modern human genetics and genomics, underpinning most research into human health and disease. But, it has limitations - it doesn't reflect human genetic diversity. A new, pangenome reference has now been published, aiming to better represent humanity.

Every year on April 25th, we observe World Malaria Day to raise awareness and mobilise action against malaria. This year, the World Health Organisation’s call to action focuses on three key areas: investing in the global malaria response, stepping up innovation, and implementing the strategies we have now.

Using genomics to identify the exact strains of bacteria responsible for cholera outbreaks has overturned centuries of thought about the very nature of the disease. Integrating genomics into cholera surveillance efforts will be vital to track and ultimately end the current pandemic, as well as reduce the threat of future ones.

Over 60 bioinformaticians and developers from across the Sanger Institute and EMBL’s European Bioinformatics Institute came together to take part in this nf-core hackathon to more easily share and analyse genomes.

As the science of genomics becomes ever more sophisticated, global capacity-sharing has never been more important.

In this third part of our innovator blog series, we spoke to Matt Hurles, Head of the Human Genetics programme and incoming Director of the Wellcome Sanger Institute. Matt defines himself as an accidental entrepreneur, even though he spearheads a number of innovative initiatives that showcase his motivation to ultimately bring benefits to patients.