Personal transcriptome variation is poorly explained by current genomic deep learning models
Connie Y. HuangiD, Richard W. ShuaiiD, Parth Baokar, Ryan ChungiD, Ruchir RastogiiD, Pooja KathailiD, Nilah M. IoannidisiD
Abstract
Genomic deep learning models can predict genome-wide epigenetic features and gene expression levels directly from DNA sequence. While current models perform well at predicting gene expression levels across genes in different cell types from the reference genome, their ability to explain expression variation between individuals due to cis-regulatory genetic variants remains largely unexplored. Here we evaluate four state-of-the-art models on paired personal genome and transcriptome data and find limited performance when explaining variation in expression across individuals.
02 /Specification & Classification
Click any tag to browse matching papers- Citations
- 127
- FWCI
- 21.56
- Field percentile
- top 1%
- Assay
- Research Focus
- Approach
Reproducibility ledger
Nobody has reported trying to reproduce this paper yet. Did you replicate an experiment or run the code? Your report saves the next lab a week.
Sign in to file a reproducibility report.
Related papers
- Deep-learning prediction of gene expression from personal genomes
Shiron Drusinsky, Sean Whalen, Katherine S. Pollard·Genome biologyPeer-reviewed·Jan 6, 2026
- Fine-tuning sequence-to-expression models onpersonal genome and transcriptome data
Ruchir Rastogi, Aniketh Janardhan Reddy, … Nilah M. Ioannidis·Genome biologyPeer-reviewed·May 25, 2026
- Benchmarking of deep neural networks for predicting personal gene expression from DNA sequence highlights shortcomings
Alexander Sasse, Bernard Ng, … Sara Mostafavi·Nature GeneticsPeer-reviewed·Nov 30, 2023
- Contrastive Regulatory Embeddings Attention Model for Differential Expression Prediction with Personalized Genomes: Insights and Challenges
Zhirui Hu, Jason Ku, Katherine S. Pollard·bioRxiv·Aug 5, 2026
- Single-cell gene expression prediction from DNA sequence at large contexts
Ron Schweßinger, Jacob Deasy, … Kim Branson·bioRxiv·Jul 26, 2023
- Disease relevance and replicability of deep learning gene expression prediction
Ada Zhang, Shinya Tasaki, … Chris Gaiteri·bioRxiv·Sep 29, 2026