Geniml: Genomic Interval Machine Learning

Overview

Geniml is a Python package for building machine learning models on genomic interval data from BED files. It provides unsupervised methods for learning embeddings of genomic regions, single cells, and metadata labels, enabling similarity searches, clustering, and downstream ML tasks.

Installation

Install geniml using uv:

uv uv pip install geniml

For ML dependencies (PyTorch, etc.):

uv uv pip install 'geniml[ml]'

Development version from GitHub:

uv uv pip install git+https://github.com/databio/geniml.git

Core Capabilities

Geniml provides five primary capabilities, each detailed in dedicated reference files:

1. Region2Vec: Genomic Region Embeddings

Train unsupervised embeddings of genomic regions using word2vec-style learning.

Use for: Dimensionality reduction of BED files, region similarity analysis, feature vectors for downstream ML.

Workflow:

1. Tokenize BED files using a universe reference
2. Train Region2Vec model on tokens
3. Generate embeddings for regions

Reference: See references/region2vec.md for detailed workflow, parameters, and examples.

2. BEDspace: Joint Region and Metadata Embeddings

Train shared embeddings for region sets and metadata labels using StarSpace.

Use for: Metadata-aware searches, cross-modal queries (region→label or label→region), joint analysis of genomic content and experimental conditions.

Workflow:

1. Preprocess regions and metadata
2. Train BEDspace model
3. Compute distances
4. Query across regions and labels

Reference: See references/bedspace.md for detailed workflow, search types, and examples.

3. scEmbed: Single-Cell Chromatin Accessibility Embeddings

Train Region2Vec models on single-cell ATAC-seq data for cell-level embeddings.

Use for: scATAC-seq clustering, cell-type annotation, dimensionality reduction of single cells, integration with scanpy workflows.