Genomic Context Embedding via Protein Language Models

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Solution Overview

Problem

Conventional techniques for modeling genomic information fail to accurately and reliably represent genes in their contextual relationships due to limitations in capturing multidimensional properties like phylogeny, structure, and function, and lack generalizability by considering genes independently and focusing on short genomic segments from narrow lineages.

Innovation Solution

A method involving obtaining genomic context information, encoding it to obtain an initial encoding, and processing this encoding with a genomic language model to generate contextual embeddings of genes, which accounts for multiple genes within a genomic context and represents them in continuous space.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Reliability

If conventional techniques model genes independently using short genomic segments, then the modeling process is simple and computationally efficient, but the accuracy and reliability of gene representation deteriorates due to failure to capture contextual relationships

Engineering Contradiction:
Improvegene representation accuracyVSAvoidmodeling system complexity
Core Design Contradiction:
ReliabilityVSDevice complexity

Solution Approach 1:

The patent segments the genomic context into multiple discrete genes within a defined genomic region (e.g., 5-50 genes). Each gene is processed individually through the embedding system while maintaining their contextual relationships, allowing the model to capture local genomic structures without overwhelming computational complexity

Inventive Principle:
Principle #1Segmentation

Solution Approach 2:

The patent implements a nested structure where protein sequence embeddings are generated first, then gene embeddings are created by aggregating protein embeddings, and finally contextual embeddings are generated by incorporating neighboring gene information. This hierarchical nesting allows complex relationships to be built from simpler components

Inventive Principle:
Principle #7Nested doll (Nesting)

2Adaptability or versatility

If conventional techniques focus on narrow lineages and short genomic segments, then the data processing is manageable, but the generalizability of the model deteriorates

Engineering Contradiction:
Improvemodel generalizabilityVSAvoidgenomic data volume
Core Design Contradiction:
Adaptability or versatilityVSQuantity of substance

Solution Approach 1:

The patent creates a universal embedding system that processes genes from diverse lineages using the same architectural framework. The model handles different organism types and genomic contexts through a unified approach, enabling broad generalizability across biological systems while managing data through standardized processing pipelines

Inventive Principle:
Principle #6Universality (Multi-functionality)

Solution Approach 2:

The patent transforms genomic data from traditional sequence space into continuous embedding space, adding dimensional depth to represent phylogenetic, structural, and functional properties simultaneously. This dimensional transformation allows the model to capture complex relationships without requiring exponentially more data

Inventive Principle:
Principle #17Another dimension (Dimensionality change)

3Loss of information

If conventional techniques use simple gene models, then the computational resources required are minimal, but the ability to capture multidimensional properties (phylogeny, structure, function) deteriorates

Engineering Contradiction:
Improvemultidimensional property captureVSAvoidcomputational resource consumption
Core Design Contradiction:
Loss of informationVSUse of energy by moving object

Solution Approach 1:

The patent pre-computes and stores protein sequence embeddings for each gene before contextual analysis. This preliminary action captures structural and functional properties in advance, so that during contextual modeling, only aggregation and integration operations are needed, reducing real-time computational burden while preserving multidimensional information

Inventive Principle:
Principle #10Preliminary action

Solution Approach 2:

The patent introduces protein embeddings as an intermediary representation between raw gene sequences and final contextual embeddings. This intermediary layer efficiently encodes multidimensional properties (phylogeny, structure, function) in a compressed form that can be aggregated without requiring direct processing of all raw genomic data

Inventive Principle:
Principle #24Intermediary (Mediator)

Data Source

PatentUS20240312558A1Machine learning systems and methods for deep learning of genomic contexts
Publication Date: 2024.09.19 PRESIDENT & FELLOWS OF HARVARD COLLEGE
  • US20240312558A1 patent drawing
  • US20240312558A1 patent drawing
  • US20240312558A1 patent drawing

AI summary

Some aspects provide for a method for generating a contextual embedding of a gene. In some embodiments, the method comprises: using at least one computer hardware processor to perform: obtaining information specifying genomic context of the gene, the genomic context containing a plurality of genes including the gene, the information containing gene sequences for the plurality of genes; encoding the information specifying the genomic context to obtain an initial encoding of the genomic context, the encoding comprising: mapping the gene sequences to protein sequences; and encoding the protein sequences using a trained protein language model (pLM) to obtain the initial encoding of the genomic context; and processing the initial encoding of the genomic context with a genomic language model (gLM) to obtain the contextual embedding of the gene.