TaoChongBao: a large-scale C. elegans missense variant database bridging worm and human genomes - PubMed
3 hours ago
- #C. elegans
- #genomics
- #missense variants
- Generated and sequenced 12,069 viable C. elegans strains with EMS mutagenesis, identifying 20,315,536 variants, including 541,102 unique missense mutations across 20,914 genes.
- Most strains show resistance to ivermectin; others display phenotypes like dumpy morphology, uncoordinated movement, multivulva formation, and blistered cuticle.
- Developed TaoChongBao, an open-access database integrating C. elegans mutation data with AlphaMissense pathogenicity scores and ClinVar annotations.
- TaoChongBao enables exploration of worm missense variants, identification of conserved human pathogenic sites, and access to viable strains for validation.
- Expands mutation coverage over 20-fold compared to the Million Mutation Project, focusing on amino acid-altering variants.
- Provides a scalable platform for functional residuomics, variant interpretation, and comparative C. elegans-human genome analyses.