Variational Autoencoder for DNA Methylation Latent Space Embedding
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Solution Overview
Problem
Current deep learning models require large amounts of labeled data for training, which is time-consuming and costly, especially for tasks like predicting biological age using DNA-methylation profiles, and they struggle to capture complex biological mechanisms effectively.
Innovation Solution
The use of Variational Autoencoders (VAEs) to embed DNA-methylation data into a latent space, allowing for the extraction of biologically relevant features and the development of a framework that combines VAEs with multi-layer perceptrons for predicting biological age, reducing the need for extensive labeled data and improving prediction accuracy.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Reliability
If deep learning models use large numbers of parameters to improve description capability, then model performance improves, but the amount of training data required increases significantly
Solution Approach 1:
The patent applies pre-training methods where models are first trained on large unlabeled datasets to learn general patterns and representations before being fine-tuned on smaller labeled datasets for specific tasks. This preliminary action allows the model to acquire general knowledge without requiring extensive labeled data for each specific task, thereby resolving the contradiction between model performance and training data requirements.
Solution Approach 2:
The patent employs transfer learning where knowledge learned from source tasks is transferred to target tasks. The model parameters learned from pre-training on large datasets are copied and adapted to new tasks with limited labeled data, allowing high performance to be achieved without proportionally increasing the amount of training data required for each new task.
2Measurement precision
If deep learning models are trained with more parameters to capture complex biological mechanisms, then prediction accuracy improves, but data annotation time and cost increase
Solution Approach 1:
The patent uses pre-training on large unlabeled biological datasets to establish robust initial models that capture general biological patterns. This preliminary action reduces the need for extensive annotation of task-specific labeled data, thereby maintaining high prediction accuracy while significantly reducing annotation time and costs.
Solution Approach 2:
The model performs self-supervised learning by utilizing the data structure and patterns inherent in the input data itself without requiring external annotations. The model learns to predict certain aspects of the data (such as masking certain tokens in language models or predicting missing values) using the data's own structure, eliminating the need for manual annotation while maintaining high accuracy.
3Productivity
If synthetic samples are generated to speed up model iteration, then data annotation cost reduces, but the generated data can only serve as base data requiring additional labeling
Solution Approach 1:
The patent generates synthetic samples and uses them for pre-training models before fine-tuning on real labeled data. This preliminary action with synthetic data accelerates model iteration and reduces the amount of real labeled data needed, as the model already learns general patterns from the synthetic base data before adapting to specific tasks with minimal real labeled examples.
Data Source
AI summary
A variational autoencoder, comprising an encoder neural network and a decoder neural network, is configured to process a plurality of non-sequence altering change marker inputs, and to encode them in a non-sequence altering change latent space, which comprises respective feature embeddings that compress respective non-sequence altering change marker inputs in the plurality of non-sequence altering change marker inputs into a jointly Gaussian distribution. A method for predictive diagnosis of rheumatoid arthritis (RA) in a patient is also disclosed. Selected marker genes associated with patients having rheumatoid arthritis are formed by methods including deep learning analysis (e.g., via the variational autoencoder). A patient's blood products are assayed to detect the marker genes associated with rheumatoid arthritis. Selected marker genes include RCNA3, HDAC4, and SIPA1. The method may be extended to detect diseases different than or in addition to rheumatoid arthritis.


