Papers

A global reference for human genetic variation.

The Encyclopedia of DNA elements (ENCODE): data portal update.

The mutational constraint spectrum quantified from variation in 141,456 humans.

Genomic benchmarks: a collection of datasets for genomic sequence classification.

Sequence modeling and design from molecular to genome scale with Evo.

Nucleotide Transformer: building and evaluating robust foundation models for human genomics.

Genome modeling and design across all domains of life with Evo 2

Pre-training genomic language model with variants for better modeling functional genomics.

Evolving computational paradigms for noncoding variant pathogenicity prediction.

Artificial Intelligence in genomics: a comprehensive survey of methods, resources, challenges, and prospects.

Comprehensive review and assessment of multi-species splicing variant prediction: task-specific deep learning models and genomic foundation models.