Long-read technologies and pangenome approaches to improve genetic studies of human diseases and traits

The first human genome sequence, completed twenty years ago, revolutionized genetics, but it still contains errors and does not capture the full diversity of human populations. New long‑read sequencing technologies now make it possible to read DNA more accurately, even in complex regions. The Human Pangenome Reference Consortium, of which the team is a member, has created a new reference genome that combines data from multiple diverse individuals. This pangenome provides a more complete picture of human genetic variation.
This project aims to apply the pangenome and long‑read sequencing tools to improve the detection and analysis of genetic variants in CARTaGENE participants. These methods can reveal variants that older technologies often missed and enhance the power of genetic studies. By using a more accurate and inclusive reference, the project seeks to uncover new links between genes, diseases, and human traits, particularly in genomic regions that are difficult to analyze and in under‑represented populations.

• Genetics and genomics
• Methodology and biostatistics

• Biochemical and hematological data
• Biological samples
• Genetic data
• Physical and cognitive measures
• Questionnaire data