Assembling more than 1,000 human genomes affordably: New method could power genetic screening's future
Why it matters: This method enables the affordable assembly of over 1,000 human genomes, powering the future of genetic screening.
- Zhen-Xing Endowed Professor Jian Yang's team at Westlake University developed the PIGA method, a pangenome-informed genome assembly workflow.
- PIGA utilizes a cost-effective hybrid sequencing strategy, integrating modest-coverage Illumina short-read and PacBio long-read whole-genome sequencing data.
- This new method successfully constructed a pangenome for over 1,000 individuals, a significant leap from previous pangenomes limited to dozens of samples due to high sequencing costs.
- The PIGA approach addresses the challenge of single linear reference genomes (like GRCh38) by capturing the full extent of genetic diversity, including complex structural variants and tandem repeats, which are often overlooked.
- The study's findings, published in the journal Nature, are expected to enhance clinical diagnostics and resolve the functional impact of complex genetic variants by providing a more comprehensive understanding of population-level genetic diversity.
A research team at Westlake University, led by Zhen-Xing Endowed Professor Jian Yang, has developed a groundbreaking PIGA method that enables the affordable assembly of over 1,000 human genomes, overcoming the limitations of previous small-sample pangenomes. This cost-effective hybrid sequencing strategy, combining long and short reads, provides a critical foundational infrastructure for advancing medical and population genetics research by better capturing human genetic diversity.
