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...

Instand-NGS4P is a 65-month PCP project federating 7 leading medical centers as buyers’ group with major experience in using different NGS platforms in research and routine diagnostics. The consortium is further strengthened by European...

Lung cancer (LC), early detection can help reduce mortality by shifting the focus away from the late-stage, largely incurable profile of the disease to the early stage when more options are available to improve patients’ outcomes and quality of life. However, current methods, like Low-Dose Computed...

The Genomic Data Infrastructure (GDI) project is enabling access to genomic and related phenotypic and clinical data across Europe. It is doing this by establishing a federated, sustainable and secure infrastructure to access the data. It builds on the outputs of the Beyond 1 Million Genomes (B1MG...