European Journal of Human Genetics - The Spanish Polygenic Score reference distribution: a resource for personalized medicine

Genomics is concerned with the sequencing and analysis of an organism's genome and its impact on biological function and disease. Advances in high-throughput sequencing technologies have revolutionized the field, allowing for the generation of vast amounts of genomic data that require bioinformatics solutions for processing, analysis, and interpretation. These technologies not only drive the study of genomics, transcriptomics, gene expression, and systems biology but also play a crucial role in pathogen genomics and genomic epidemiology, enabling the real-time monitoring of infectious diseases and the study of viral and microbial evolution.

Background Despite the use of Next-Generation Sequencing (NGS) as the gold standard for the diagnosis of rare diseases, its clinical implementation has been challenging, limiting the cost-effectivenes...