Fig. 2

Clinical applications of WGS. Whole Genome Sequencing (WGS) finds its primary clinical applications in diagnosing rare diseases and pinpointing actionable somatic variants within tumors. Beyond these crucial roles, WGS serves to unveil polygenic risk scores (PRS) and pharmacogenetic profiles. The spectrum of rare diseases and somatic variants encompasses both small and structural variations, all discernible through WGS data analysis. WGS also enables the identification of trinucleotide repeat expansions prevalent in neuro-muscular and degenerative diseases. Additionally, it sheds light on polygenic and pharmacogenomic profiles, elucidated by the presence of widespread small common variants. In a comprehensive approach, WGS not only captures the intricate details of genetic makeup but also unveils tumor signatures by deciphering distinctive patterns within somatic variants. Human insert was created with BioRender.com