An international team of scientists co-led by The Jackson Laboratory (JAX) has published major findings in the journal Nature, successfully completing the full sequencing of human genomes from 65 individuals of diverse ancestries. This study fills 92% of previously inaccessible genomic data gaps, offering new insights into the relationship between genetic variation and disease.

Using the latest sequencing technologies, the team resolved 1,852 complex structural variation regions that were previously difficult to analyze. JAX geneticist Christine Beck stated: "This study captures important variations that explain why disease risk differs between individuals." The research particularly focused on critical regions such as the Y chromosome, immune system-related genes, and the SMN gene responsible for spinal muscular atrophy.

The achievement builds on the first complete human genome sequencing in 2022 and the 2023 pangenome draft of 47 individuals, elevating genome sequencing accuracy to new heights. The study revealed complete sequences of key regions including the amylase gene cluster and transposable DNA elements, laying the foundation for precision medicine.

"Now we can accurately identify the most complex variations in the genome," noted JAX computational biologist Peter Audano. The variation detection software developed in this study has been made open-source and will facilitate breakthroughs in research on autism, rare diseases, and cancer.