Westlake University Builds 1,000‑plus Human Pangenome
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- Westlake University’s team led by Jian Yang assembled a pangenome of 1,116 diploid genomes, the largest human pangenome reported to date.
- PIGA combines modest‑coverage Illumina short reads with PacBio long reads, cutting sequencing costs while achieving a mean QV of 46.
- Variant catalog derived from the pangenome includes 405.3 million base pairs of non‑reference sequences, of which 26.2 Mb are annotated as functional genes or regulatory elements.
- Variant catalog also records 35.4 million small variants, 110,530 structural variants, 485,575 tandem repeats, and 0.86 million nested variants.
- eQTL analysis identified 3,256 expression quantitative trait loci involving complex variants, linking them to regulatory effects.
- Nature publication of the study highlights the 1KCP variant catalog as a new reference for clinical screening of pathogenic mutations.
Why it matters: Researchers and clinicians gain a comprehensive reference of structural and regulatory variants across diverse Chinese populations, enabling more accurate genetic screening and disease association studies, while previous single‑reference genomes left many variants undetected. This also reduces the cost barrier for large‑scale genomic projects, allowing broader population studies and potentially improving diagnostic yields in clinical practice.
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