Update README.md (#1)
Browse files- Update README.md (12b963f9a1d16328f40e2383ec63b539ac01a6f6)
Co-authored-by: Özlem Muslu <ozlemmuslu@users.noreply.huggingface.co>
README.md
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---
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language:
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- en
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license: cc-by-nc-nd-4.0
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tags:
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- NGS
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- somatic-variant-calling
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---
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# Model Card for Model ID
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This is a 3D DenseNet model for detection of somatic SNV candidates.
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## Model Details
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### Model Description
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- **Developed by:** Özlem Muslu
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- **Funded by :** European Research Council (“ERC Advanced Grant “SUMMIT” (Ugur Sahin): 789256”)
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- **License:** cc-by-nc-nd-4.0
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### Model Sources
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- **Repository:** https://github.com/TRON-Bioinformatics/VariantMedium
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## Uses
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Using matched tumor-normal paired short read sequencing data, you can call a list of somatic point mutations.
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### Downstream Use
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This model is a part of VariantMedium somatic variant caller and is integrated directly into its workflow https://github.com/TRON-Bioinformatics/VariantMedium
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### Out-of-Scope Use
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The model on its own is not intended to create a final list of variant calls, it is intended a part of a pipeline (https://github.com/TRON-Bioinformatics/VariantMedium)
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## Bias, Risks, and Limitations
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The model is trained on the output of cell line WES, TCGA WES, and an AML WGS, both originating from short read Illumina sequencing. It is tested for other cancer entities and mostly for solid tumors, but is not tested for non-Illumina sequencing.
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### Recommendations
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We recommend using this model for Illumina-based WES and WGS (paired, short read).
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## Training Details
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### Training Data
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Matched tumor-normal sequencing published under https://ega-archive.org/studies/EGAS00001007633 , https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000178.v11.p8 , and https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000159.v13.p5.
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## Evaluation
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Evaluation on two independent cohorts. More information can be found on our publication linked under: https://github.com/TRON-Bioinformatics/VariantMedium
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### Testing Data, Factors & Metrics
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#### Testing Data
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Tested on independent data sets:
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- [PCAWG-Pilot63](https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000178.v11.p8)
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- [SEQC2 WES samples](ftp://ftp-trace.ncbi.nlm.nih.gov/ReferenceSamples/seqc/Somatic_Mutation_WG/)
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#### Summary
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