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Artificial intelligence in diagnostics of genetic diseases

https://doi.org/10.21626/innova/2024.1/10

Abstract

Artificial intelligence is helping scientists using computing software, new programs and algorithms to identify the DNA variants in our genomes and misspellings in human DNA that are most likely to cause disease. These predictions may help to diagnose even uncommon diseases more quickly and provide guidance for the creation of new drugs and a succesful treatment

About the Authors

Murilo M. E. Del Pozo
Kursk State Medical University
Russian Federation


D.S.R. Rajkumar
Kursk State Medical University
Russian Federation


References

1. https://scopeblog.stanford.edu/2022/06/10/using-ai-to-find-disease-causing-genes/.

2. https://www.gaucherdisease.org/blog/ai-and-rare-disease-diagnosis-national-gaucher-foundation/.

3. https://www.wired.com/story/deepmind-ai-alphamissense-genetics-rare-diseases/.

4. https://www.genome.gov/news/news-release/artificial-intelligence-tools-help-scientists-decode-genomic-disorders-and-communicate-genomic-risks.

5. https://www.scientificamerican.com/article/ai-tool-pinpoints-genetic-mutations-that-cause-disease/.

6. https://www.labiotech.eu/opinion/rare-disease-diagnosis-ai/.

7. https://es.wired.com/articulos/la-nueva-ia-de-deepmind-puede-predecir-enfermedades-geneticas.

8. https://www.technologyreview.com/2023/09/19/1079871/deepmind-alphamissense-ai-pinpoint-causes-genetic-disease/.

9. https://www.axios.com/2023/09/20/google-deepmind-ai-genetic-disease.

10. https://phys.org/news/2023-09-google-ai-tool-danger-genetic.html.

11. https://med.stanford.edu/news/all-news/2019/04/ai-identifies-risk-of-cholesterol-raising-genetic-disease.html.

12. https://www.darkdaily.com/2022/11/14/stanford-medicine-scientists-sequence-patients-whole-genome-in-just-five-hours-using-nanopore-genome-sequencing-ai-and-cloud-computing/.

13. https://attheu.utah.edu/facultystaff/ai-technology-identifies-genetic-causes-of-serious-disease/.

14. https://www.theguardian.com/science/2023/sep/19/google-deepmind-ai-tool-assesses-dna-mutations-for-harm-potential.

15. https://www.darkdaily.com/2023/11/15/google-deepmind-says-its-new-artificial-intelligence-tool-can-predict-which-genetic-variants-are-likely-to-cause-disease/.

16. https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-021-00965-0.

17. https://www.news-medical.net/news/20230920/AlphaMissense-revolutionizes-genetic-mutation-analysis-for-disease-prediction.aspx.

18. https://www.science.org/doi/10.1126/science.adg7492.

19. https://www.wired.co.uk/article/deepmind-ai-alphamissense-genetics-rare-diseases.

20. https://the-decoder.com/deepminds-alphamissense-predicts-potentially-disease-causing-gene-mutations/.

21. https://www.insideprecisionmedicine.com/topics/precision-medicine/alphamissense-classifies-mutation-pathogenicity/.

22. https://www.warpnews.org/artificial-intelligence/new-ai-predicts-genetic-diseases/.

23. https://pharmaphorum.com/news/deepmind-applies-its-ai-expertise-genetic-diseases.

24. https://www.techopedia.com/how-deepmind-alphafold-ai-unveils-hidden-dna-disease-secrets.

25. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947640/.

26. https://singularityhub.com/2023/09/21/deepmind-ai-hunts-down-the-dna-mutations-behind-genetic-disease/


Review

For citations:


Del Pozo M., Rajkumar D. Artificial intelligence in diagnostics of genetic diseases. Innova. 2024;10(1):13-16. (In Russ.) https://doi.org/10.21626/innova/2024.1/10

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