【#Tech24H】The human genome completed in 2003 contained numerous blind spots and struggled to account for genetic variations among individuals. Researchers at Westlake University and their collaborators have developed a novel PIGA (Pangenome Integrated Genome Assembly？), successfully constructing the world's largest human pan-genome to date and identifying approximately 13% of previously unknown sequences in the human genome. Within these newly discovered sequences, the team identified 26.2 million base pairs of functional genes and regulatory elements that guide protein synthesis and control gene expression. They also produced the most detailed map of human genetic variation to date, covering 35.4 million small variants, and deciphered a large number of complex variants such as difficult-to-detect structural variants, tandem repeats, and nested variants. Furthermore, the team pinpointed 3,256 key complex variants that regulate gene expression, providing an important foundation for genetic diagnosis of diseases.