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Contact

Questions, corrections, and collaboration are welcome. For data issues please include the variant id or gene and what you observed.

Authors

Yen-Hung Chen, first author.

Yi-Chuan Li, corresponding author.

Graduate Institute of Biomedical Sciences, China Medical University, Taichung, Taiwan.

Email: syuan088666@gmail.com

Data, code and license

Permanent archive and bulk data: Zenodo DOI 10.5281/zenodo.20753827.

The variant effect predictions are AlphaGenome Output, used under the AlphaGenome Output Terms of Use (non-commercial). AetherXeno's own annotations are released under CC-BY-NC and the code under MIT.

Underlying public data

Built entirely on public resources: receptor ChIP-seq from GEO, AlphaGenome for the sequence-to-function backbone, gnomAD for observed variants and allele frequency, and GTEx liver eQTLs, ClinVar, GWAS Catalog, JASPAR/FIMO motifs and phyloP for cross annotation. Full accessions and methods are in the Documentation.