metadata

tags:
  - dna
  - human_genome

GENA-LM (gena-lm-bigbird-base-t2t)

GENA-LM is a Family of Open-Source Foundational Models for Long DNA Sequences.

GENA-LM models are transformer masked language models trained on human DNA sequence.

gena-lm-bigbird-base-t2t follows the BigBird architecture and its HuggingFace implementation.

Differences between GENA-LM (gena-lm-bigbird-base-t2t) and DNABERT:

BPE tokenization instead of k-mers;
input sequence size is about 36000 nucleotides (4096 BPE tokens) compared to 512 nucleotides of DNABERT;
pre-training on T2T vs. GRCh38.p13 human genome assembly.

Source code and data: https://github.com/AIRI-Institute/GENA_LM

Paper: https://www.biorxiv.org/content/10.1101/2023.06.12.544594

This repository also contains models that are finetuned on downstream tasks and models that are used in our GENA-Web web tool for genomic sequence annotation:

splice sites prediction (branch gena_web_spliceai)

Examples

Load pre-trained model

from transformers import AutoTokenizer, BigBirdForMaskedLM

tokenizer = AutoTokenizer.from_pretrained('AIRI-Institute/gena-lm-bigbird-base-t2t')
model = BigBirdForMaskedLM.from_pretrained('AIRI-Institute/gena-lm-bigbird-base-t2t')

How to load the model to fine-tune it on classification task

from transformers import AutoTokenizer, BigBirdForSequenceClassification

tokenizer = AutoTokenizer.from_pretrained('AIRI-Institute/gena-lm-bigbird-base-t2t')
model = BigBirdForSequenceClassification.from_pretrained('AIRI-Institute/gena-lm-bigbird-base-t2t')

Model description

GENA-LM (gena-lm-bigbird-base-t2t) model is trained in a masked language model (MLM) fashion, following the methods proposed in the BigBird paper by masking 15% of tokens. Model config for gena-lm-bigbird-base-t2t is similar to the google/bigbird-roberta-base:

4096 Maximum sequence length
12 Layers, 12 Attention heads
768 Hidden size
sparse config:
- block size: 64
- random blocks: 3
- global blocks: 2
- sliding window blocks: 3
32k Vocabulary size, tokenizer trained on DNA data.

We pre-trained gena-lm-bigbird-base-t2t using the latest T2T human genome assembly (https://www.ncbi.nlm.nih.gov/assembly/GCA_009914755.3/). The data was augmented by sampling mutations from 1000-genome SNPs (gnomAD dataset). Pre-training was performed for 1,070,000 iterations with batch size 256.

Evaluation

For evaluation results, see our paper: https://www.biorxiv.org/content/10.1101/2023.06.12.544594v1

Citation

@article{GENA_LM,
    author = {Veniamin Fishman and Yuri Kuratov and Maxim Petrov and Aleksei Shmelev and Denis Shepelin and Nikolay Chekanov and Olga Kardymon and Mikhail Burtsev},
    title = {GENA-LM: A Family of Open-Source Foundational Models for Long DNA Sequences},
    elocation-id = {2023.06.12.544594},
    year = {2023},
    doi = {10.1101/2023.06.12.544594},
    publisher = {Cold Spring Harbor Laboratory},
    URL = {https://www.biorxiv.org/content/early/2023/06/13/2023.06.12.544594},
    eprint = {https://www.biorxiv.org/content/early/2023/06/13/2023.06.12.544594.full.pdf},
    journal = {bioRxiv}
}