1000 Genomes Project Reveals Most Complete Human Genetic Variation Map

The 1000 Genomes Project, launched in 2007 and completed with data from over 2,500 individuals, has provided a foundational resource for understanding human genetic variation. Recent advances in long-read sequencing technologies have enabled scientists to decode much longer stretches of DNA, allowing for more complete genome assemblies and deeper insights into structural variations previously difficult to resolve. Researchers from institutions including EMBL and Clemson University have leveraged these methods to produce the most comprehensive and accurate views of the human genome to date, particularly in complex regions, enhancing studies of gene function, disease, and evolution. Additionally, PacBio has joined the ongoing 1000 Genomes Long Read Sequencing Project to contribute full-length isoform sequencing data from approximately 1,000 samples using its Kinnex RNA kits and Revio platform. This addition aims to improve understanding of gene expression, splicing, and regulatory elements across diverse populations, supporting applications from basic biology to rare disease diagnostics. Together, these efforts represent significant progress in genomics, offering richer data for the global scientific community to explore human health and biology.