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Updated AI-MARVEL manuscript link in README and Docs #30

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Jul 1, 2024
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Updated AI-MARVEL manuscript link in README and Docs #30

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27 changes: 23 additions & 4 deletions README.md
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Expand Up @@ -12,9 +12,6 @@
<a href='https://ai-marrvel.readthedocs.io/en/latest/?badge=latest'>
<img src='https://readthedocs.org/projects/ai-marrvel/badge/?version=latest' alt='Documentation Status' />
</a>
<a style="text-decoration:none">
<img src="http://img.shields.io/badge/Preprint-DOI:10.2139/ssrn.4465963-lightgreen.svg"/>
</a>
</p>

**AI-MARRVEL (AIM)** is an AI system for rare genetic disease diagnosis.
Expand All @@ -25,8 +22,10 @@ and generates **prediction score** + **confidence score** as output.


You can use AI-MARRVEL from our [website](https://ai.marrvel.org/) or follow the [documentation](https://ai-marrvel.readthedocs.io/en/latest/) to run locally.



:new: Our paper is now published in [NEJM AI](https://ai.nejm.org/doi/full/10.1056/AIoa2300009)!


## Quick Start

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## Disclaimer
- Some of the data and software included in the distribution may be subject to third-party constraints. Users of the data and software are solely responsible for establishing the nature of and complying with any such restrictions.
- AI-MARRVEL provides this data and software in good faith, but make no warranty, express or implied, nor assume any legal liability or responsibility for any purpose for which they are used.

## Citing AI-MARRVEL

```bibtex
@article{doi:10.1056/AIoa2300009,
author = {Dongxue Mao and Chaozhong Liu and Linhua Wang and Rami AI-Ouran and Cole Deisseroth and Sasidhar Pasupuleti and Seon Young Kim and Lucian Li and Jill A. Rosenfeld and Linyan Meng and Lindsay C. Burrage and Michael F. Wangler and Shinya Yamamoto and Michael Santana and Victor Perez and Priyank Shukla and Christine M. Eng and Brendan Lee and Bo Yuan and Fan Xia and Hugo J. Bellen and Pengfei Liu and Zhandong Liu },
title = {AI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian Disorders},
journal = {NEJM AI},
volume = {1},
number = {5},
pages = {AIoa2300009},
year = {2024},
doi = {10.1056/AIoa2300009},

URL = {https://ai.nejm.org/doi/abs/10.1056/AIoa2300009},
eprint = {https://ai.nejm.org/doi/pdf/10.1056/AIoa2300009}
,
abstract = { AI-MARRVEL is an AI system for genetic diagnosis that improves diagnostic accuracy, surpassing state-of-the-art benchmarked methods. }
}
```
4 changes: 2 additions & 2 deletions docs/source/index.rst
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Citation
=====================
**Enhancing Molecular Diagnostics of Mendelian Disorders with AI-MARRVEL: A Knowledge-Driven Artificial Intelligence Approach.**
Click `here <https://dx.doi.org/10.2139/ssrn.4465963>`_ for details.
**AI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian Disorders.**
Click `here <https://ai.nejm.org/doi/full/10.1056/AIoa2300009>`_ for details.


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