GeMI

GeMI extracts structured metadata from plain-text Gene Expression Omnibus (GEO) experiment descriptions to enable standardized indexing and searchable metadata across functional genomics datasets.


Key Features:

  • GEO free-text processing: Processes unstructured experiment descriptions from the Gene Expression Omnibus (GEO).
  • Transformer-based NLP (fine-tuned GPT-2): Uses a fine-tuned Generative Pre-trained Transformer 2 (GPT-2) model for natural language processing of metadata text.
  • Structured key-value extraction: Converts unstructured free-text into structured key-value pairs for metadata standardization.
  • Indexing for search: Produces outputs that can be indexed to support efficient and precise search across datasets.
  • Active learning with feedback: Incorporates an active learning framework to refine model predictions based on user feedback.
  • Model interpretation (saliency maps): Provides saliency-map-based interpretation to highlight text regions driving model predictions.
  • Implicit attribute inference: Infers attributes not explicitly mentioned in text, including sex, tissue type, cell type, ethnicity, and disease.

Scientific Applications:

  • Metadata curation and augmentation: Automates extraction and harmonization of metadata to reduce redundancy, inconsistency, and incompleteness in GEO records.
  • Attribute-based search and retrieval: Enables indexed, attribute-driven search across functional genomics datasets for targeted queries.
  • Experiment classification and cohort selection: Supports classification of experiments and selection of sample cohorts using inferred attributes such as sex, tissue, cell type, ethnicity, and disease.
  • Downstream data mining and integrative analysis: Facilitates large-scale data mining and integrative analyses by supplying structured metadata for functional genomics studies.

Methodology:

Applies a fine-tuned GPT-2 transformer-based NLP model to convert GEO free-text experiment descriptions into structured key-value pairs that can be indexed for search, employs an active learning framework for model refinement based on feedback, and uses saliency maps for model interpretation.

Topics

Details

License:
Not licensed
Cost:
Free of charge
Tool Type:
command-line tool, web application
Operating Systems:
Mac, Linux, Windows
Programming Languages:
JavaScript, Python
Added:
9/16/2022
Last Updated:
11/24/2024

Operations

Publications

Serna Garcia G, Leone M, Bernasconi A, Carman MJ. GeMI: interactive interface for transformer-based Genomic Metadata Integration. Database. 2022;2022. doi:10.1093/database/baac036. PMID:35657113. PMCID:PMC9216561.

Cannizzaro G, Leone M, Bernasconi A, Canakoglu A, Carman MJ. Automated Integration of Genomic Metadata with Sequence-to-Sequence Models. Lecture Notes in Computer Science. 2021. doi:10.1007/978-3-030-67670-4_12.

Links