Published November 14, 2025 | Version v1

Zygosity-Aware DNA Language Modeling Improves Ancestry and Gene Expression Prediction

  • 1. ROR icon University of Lausanne
  • 2. Health2030 Genome Center
  • 3. ROR icon Centre Hospitalier Universitaire Vaudois
  • 4. Swiss Institute of Bioinformatics

Description

This repository provides .pkl files containing HyenaDNA-derived embeddings for the MHC region of chromosome 6 in 2,584 individuals from the 1000 Genomes Project. Embeddings are provided for three aggregation strategies (mean, max, and last pooling). Associated files include .csv and .npy data for the XGBoost ancestry classification results using stratified 5-fold cross-validation; these files reproduce all figures in the main paper using analysis code from our GitHub repository. Additionally, text files listing the genes in each 450 kb MHC window are included, supporting the finding that windows with highest classification performance are enriched in HLA and other immunity-related genes.

Files

Files (102.9 MB)

Name Size
md5:1952119d46034b2e98121e31aeff77c4
102.9 MB Download
md5:330be6ef6eb9df94ab26ca840b2a7073
5.2 kB Download
md5:6de10bea3be5c4a840eb658a3cdca82f
3.0 kB Download

Additional details

Dates

Submitted
2025-11-14

Software

Repository URL
https://github.com/huRashidy/Zygosity_DNALM
Programming language
Python
Development Status
Active