innjoInnovaInnova2500-2937КГМУ10.21626/innova/2024.1/10innjo-555Research ArticleСтатьиПрименение искусственного интеллекта в диагностике генетических заболеванийArtificial intelligence in diagnostics of genetic diseasesМурило М.Э.Дель ПосоDel PozoMurilo M. E.РаджкумарД.С.Р.RajkumarD.S.R.rajkumardsr@kursksmu.netКурский государственный медицинский университетРоссияKursk State Medical UniversityRussian Federation2024240420241011316Copyright © Мурило М.Э. Д., Раджкумар Д., 20242024Мурило М.Э. Д., Раджкумар Д.Del Pozo M., Rajkumar D.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.innova-journal.ru/jour/article/view/555

Искусственный интеллект помогает ученым с помощью компьютерного программного обеспечения, новых программ и алгоритмов идентифицировать варианты ДНК в наших геномах и ошибки в написании ДНК человека, которые с наибольшей вероятностью могут вызвать заболевания. Эти прогнозы могут помочь быстрее диагностировать даже редкие заболевания и послужить руководством для создания новых лекарств и успешного лечения

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

генетические заболеванияискусственный интеллектнарушение обмена веществпропионовая ацидемияпрогнозирование генетических мутацийгенетические нарушенияgenetic diseasesartificial intelligencemetabolic disorderpropionic acidemiagenetic mutation predictiongenetic disordersReferenceshttps://scopeblog.stanford.edu/2022/06/10/using-ai-to-find-disease-causing-genes/.https://scopeblog.stanford.edu/2022/06/10/using-ai-to-find-disease-causing-genes/.https://www.gaucherdisease.org/blog/ai-and-rare-disease-diagnosis-national-gaucher-foundation/.https://www.gaucherdisease.org/blog/ai-and-rare-disease-diagnosis-national-gaucher-foundation/.https://www.wired.com/story/deepmind-ai-alphamissense-genetics-rare-diseases/.https://www.wired.com/story/deepmind-ai-alphamissense-genetics-rare-diseases/.https://www.genome.gov/news/news-release/artificial-intelligence-tools-help-scientists-decode-genomic-disorders-and-communicate-genomic-risks.https://www.genome.gov/news/news-release/artificial-intelligence-tools-help-scientists-decode-genomic-disorders-and-communicate-genomic-risks.https://www.scientificamerican.com/article/ai-tool-pinpoints-genetic-mutations-that-cause-disease/.https://www.scientificamerican.com/article/ai-tool-pinpoints-genetic-mutations-that-cause-disease/.https://www.labiotech.eu/opinion/rare-disease-diagnosis-ai/.https://www.labiotech.eu/opinion/rare-disease-diagnosis-ai/.https://es.wired.com/articulos/la-nueva-ia-de-deepmind-puede-predecir-enfermedades-geneticas.https://es.wired.com/articulos/la-nueva-ia-de-deepmind-puede-predecir-enfermedades-geneticas.https://www.technologyreview.com/2023/09/19/1079871/deepmind-alphamissense-ai-pinpoint-causes-genetic-disease/.https://www.technologyreview.com/2023/09/19/1079871/deepmind-alphamissense-ai-pinpoint-causes-genetic-disease/.https://www.axios.com/2023/09/20/google-deepmind-ai-genetic-disease.https://www.axios.com/2023/09/20/google-deepmind-ai-genetic-disease.https://phys.org/news/2023-09-google-ai-tool-danger-genetic.html.https://phys.org/news/2023-09-google-ai-tool-danger-genetic.html.https://med.stanford.edu/news/all-news/2019/04/ai-identifies-risk-of-cholesterol-raising-genetic-disease.html.https://med.stanford.edu/news/all-news/2019/04/ai-identifies-risk-of-cholesterol-raising-genetic-disease.html.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/.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/.https://attheu.utah.edu/facultystaff/ai-technology-identifies-genetic-causes-of-serious-disease/.https://attheu.utah.edu/facultystaff/ai-technology-identifies-genetic-causes-of-serious-disease/.https://www.theguardian.com/science/2023/sep/19/google-deepmind-ai-tool-assesses-dna-mutations-for-harm-potential.https://www.theguardian.com/science/2023/sep/19/google-deepmind-ai-tool-assesses-dna-mutations-for-harm-potential.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/.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/.https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-021-00965-0.https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-021-00965-0.https://www.news-medical.net/news/20230920/AlphaMissense-revolutionizes-genetic-mutation-analysis-for-disease-prediction.aspx.https://www.news-medical.net/news/20230920/AlphaMissense-revolutionizes-genetic-mutation-analysis-for-disease-prediction.aspx.https://www.science.org/doi/10.1126/science.adg7492.https://www.science.org/doi/10.1126/science.adg7492.https://www.wired.co.uk/article/deepmind-ai-alphamissense-genetics-rare-diseases.https://www.wired.co.uk/article/deepmind-ai-alphamissense-genetics-rare-diseases.https://the-decoder.com/deepminds-alphamissense-predicts-potentially-disease-causing-gene-mutations/.https://the-decoder.com/deepminds-alphamissense-predicts-potentially-disease-causing-gene-mutations/.https://www.insideprecisionmedicine.com/topics/precision-medicine/alphamissense-classifies-mutation-pathogenicity/.https://www.insideprecisionmedicine.com/topics/precision-medicine/alphamissense-classifies-mutation-pathogenicity/.https://www.warpnews.org/artificial-intelligence/new-ai-predicts-genetic-diseases/.https://www.warpnews.org/artificial-intelligence/new-ai-predicts-genetic-diseases/.https://pharmaphorum.com/news/deepmind-applies-its-ai-expertise-genetic-diseases.https://pharmaphorum.com/news/deepmind-applies-its-ai-expertise-genetic-diseases.https://www.techopedia.com/how-deepmind-alphafold-ai-unveils-hidden-dna-disease-secrets.https://www.techopedia.com/how-deepmind-alphafold-ai-unveils-hidden-dna-disease-secrets.https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947640/.https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947640/.https://singularityhub.com/2023/09/21/deepmind-ai-hunts-down-the-dna-mutations-behind-genetic-disease/https://singularityhub.com/2023/09/21/deepmind-ai-hunts-down-the-dna-mutations-behind-genetic-disease/

The authors declare that there are no conflicts of interest present.