Bias-invariant RNA-sequencing metadata annotation

Gigascience. 2021 Sep 22;10(9):giab064. doi: 10.1093/gigascience/giab064.


Background: Recent technological advances have resulted in an unprecedented increase in publicly available biomedical data, yet the reuse of the data is often precluded by experimental bias and a lack of annotation depth and consistency. Missing annotations makes it impossible for researchers to find datasets specific to their needs.

Findings: Here, we investigate RNA-sequencing metadata prediction based on gene expression values. We present a deep-learning-based domain adaptation algorithm for the automatic annotation of RNA-sequencing metadata. We show, in multiple experiments, that our model is better at integrating heterogeneous training data compared with existing linear regression-based approaches, resulting in improved tissue type classification. By using a model architecture similar to Siamese networks, the algorithm can learn biases from datasets with few samples.

Conclusion: Using our novel domain adaptation approach, we achieved metadata annotation accuracies up to 15.7% better than a previously published method. Using the best model, we provide a list of >10,000 novel tissue and sex label annotations for 8,495 unique SRA samples. Our approach has the potential to revive idle datasets by automated annotation making them more searchable.

Keywords: RNA-seq metadata; automated annotation; bias invariance; deep learning; computational biology; bioinformatics; data reusability; domain adaptation; machine learning.