It is well known that African populations harbour greater genetic diversity, a characteristic that could potentially shape the epidemiological landscape of hereditary diseases in the continent. However, studies on the association between genetic diversity and its impact on the prevalence of genetic...

Current estimates suggest that venomous snakes affect at least 1.8–2.7 million people worldwide each year, leaving a trail of between 81,000 and 138,000 deaths and 400,000 surviving victims who suffer from permanent physical and psychological disabilities. Snakes are abundant in warmer climates,...

Within the framework of the Catalan Initiative for the Biogenome Project (CBP) and funded by the Institute of Catalan Studies, the Multidisciplinary Consortium is established to coordinate the construction of reference...

In Catalonia, biospeleology has a rich tradition that dates back 150 years, and local researchers have pioneered molecular approaches to study cave organisms. Within the framework of the second call of the CBP to articulate projects to sequence the genome of species of the Catalan-speaking...

Data science and machine learning offer important opportunities for advancing digital health and diagnostics. However, it is necessary to achieve scientific and technological breakthroughs beyond the capabilities of current systems. Healthcare generates amounts of data through clinical exams...

Production of reference genomes of EBP-quality at scale requires a high level of automation and quality control. We aim to continue updating the de novo genome assembly pipeline in production at the CNAG. Plans include the addition of Hifiasm for assembly of PacBio HiFi data, testing and...