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SegmentEnformer is a segmentation model leveraging [Enformer](https://www.nature.com/articles/s41592-021-01252-x) to predict the location of several types of genomics
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elements in a sequence at a single nucleotide resolution. It was trained on 14 different classes, including gene (protein-coding genes, lncRNAs, 5’UTR, 3’UTR, exon, intron, splice acceptor and donor sites) and regulatory (polyA signal, tissue-invariant and
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tissue-specific promoters and enhancers, and CTCF-bound sites) elements.
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**Developed by:** [InstaDeep](https://huggingface.co/InstaDeepAI)
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# SegmentEnformer
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SegmentEnformer is a segmentation model leveraging [Enformer](https://www.nature.com/articles/s41592-021-01252-x) to predict the location of several types of genomics
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elements in a sequence at a single nucleotide resolution. It was trained on 14 different classes, including gene (protein-coding genes, lncRNAs, 5’UTR, 3’UTR, exon, intron, splice acceptor and donor sites) and regulatory (polyA signal, tissue-invariant and
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tissue-specific promoters and enhancers, and CTCF-bound sites) elements.
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**Developed by:** [InstaDeep](https://huggingface.co/InstaDeepAI)
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### Model Sources
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<!-- Provide the basic links for the model. -->
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- **Repository:** [Nucleotide Transformer](https://github.com/instadeepai/nucleotide-transformer)
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- **Paper:** [Segmenting the genome at single-nucleotide resolution with DNA foundation models](https://www.biorxiv.org/content/biorxiv/early/2024/03/15/2024.03.14.584712.full.pdf)
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### How to use
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To Be Done
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## Training data
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The **SegmentEnformer** model was trained on all human chromosomes except for chromosomes 20 and 21, kept as test set, and chromosome 22, used as a validation set.
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During training, sequences are randomly sampled in the genome with associated annotations. However, we keep the sequences in the validation and test set fixed by
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using a sliding window of length 196kb (original enformer input length) over the chromosomes 20 and 21. The validation set was used to monitor training and for early stopping.
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## Training procedure
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### Preprocessing
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The DNA sequences are tokenized using one-hot encoding similar to the Enformer model
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### Architecture
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The model is composed of the Enformer backbone, from which we remove the heads and replaced it by a 1-dimensional U-Net segmentation head made of 2 downsampling convolutional blocks and 2 upsampling convolutional blocks. Each of these
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blocks is made of 2 convolutional layers with 1, 024 and 2, 048 kernels respectively.
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### BibTeX entry and citation info
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```bibtex
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@article{de2024segmentnt,
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title={SegmentNT: annotating the genome at single-nucleotide resolution with DNA foundation models},
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author={de Almeida, Bernardo P and Dalla-Torre, Hugo and Richard, Guillaume and Blum, Christopher and Hexemer, Lorenz and Gelard, Maxence and Pandey, Priyanka and Laurent, Stefan and Laterre, Alexandre and Lang, Maren and others},
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journal={bioRxiv},
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pages={2024--03},
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year={2024},
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publisher={Cold Spring Harbor Laboratory}
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}
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```
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