A Chinese research team, led by Professor Yang Jian from Westlake University and in collaboration with other experts, has developed an innovative approach known as Pangenome-based Integrated Assembly (PIGA). This groundbreaking method has enabled them to successfully construct the world's largest human pangenome, uncovering approximately 13% of previously unknown sequences within the human genome.

The team adopted a hybrid sequencing strategy that combines second- and third-generation sequencing technologies. This approach not only effectively reduced sequencing costs but also achieved high-quality genome assembly for large-scale populations. The resulting large-sample pangenome is instrumental in facilitating the diagnosis of rare diseases.

Moreover, the research has identified functional genes and regulatory elements, mapped a detailed genetic variation atlas, and pinpointed key complex variations. These findings provide a solid scientific foundation for the genetic diagnosis of diseases and offer a novel methodology for pangenome research in the fields of human health and other species.