Machine learning capabilities for the diagnosis of orphan diseases

Rare or orphan diseases belong to one of the most severe groups of diseases. At the same time, early and accurate diagnosis of such diseases is a serious problem for general practitioners, pediatricians and therapists. The article discusses the possibilities of using machine learning methods, includ...

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Main Author: N. Y. Dmitrieva
Format: Article
Language:Russian
Published: Publishing House OKI 2023-10-01
Series:Реальная клиническая практика: данные и доказательства
Subjects:
Online Access:https://www.myrwd.ru/jour/article/view/46
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author N. Y. Dmitrieva
author_facet N. Y. Dmitrieva
author_sort N. Y. Dmitrieva
collection DOAJ
description Rare or orphan diseases belong to one of the most severe groups of diseases. At the same time, early and accurate diagnosis of such diseases is a serious problem for general practitioners, pediatricians and therapists. The article discusses the possibilities of using machine learning methods, including artificial intelligence, to improve the diagnosis of rare diseases. Information is provided on various models developed by both international experts and Russian researchers.
format Article
id doaj-art-caea615a8d4b45d29857a6113e5d7b11
institution Matheson Library
issn 2782-3784
language Russian
publishDate 2023-10-01
publisher Publishing House OKI
record_format Article
series Реальная клиническая практика: данные и доказательства
spelling doaj-art-caea615a8d4b45d29857a6113e5d7b112025-08-03T13:00:11ZrusPublishing House OKIРеальная клиническая практика: данные и доказательства2782-37842023-10-0133363910.37489/2782-3784-myrwd-4044Machine learning capabilities for the diagnosis of orphan diseasesN. Y. Dmitrieva0AO "Aston Consulting"Rare or orphan diseases belong to one of the most severe groups of diseases. At the same time, early and accurate diagnosis of such diseases is a serious problem for general practitioners, pediatricians and therapists. The article discusses the possibilities of using machine learning methods, including artificial intelligence, to improve the diagnosis of rare diseases. Information is provided on various models developed by both international experts and Russian researchers.https://www.myrwd.ru/jour/article/view/46orphan diseasesmachine learningrare diseasesclinical registriesobservation programsreal-world datarwdrwe
spellingShingle N. Y. Dmitrieva
Machine learning capabilities for the diagnosis of orphan diseases
Реальная клиническая практика: данные и доказательства
orphan diseases
machine learning
rare diseases
clinical registries
observation programs
real-world data
rwd
rwe
title Machine learning capabilities for the diagnosis of orphan diseases
title_full Machine learning capabilities for the diagnosis of orphan diseases
title_fullStr Machine learning capabilities for the diagnosis of orphan diseases
title_full_unstemmed Machine learning capabilities for the diagnosis of orphan diseases
title_short Machine learning capabilities for the diagnosis of orphan diseases
title_sort machine learning capabilities for the diagnosis of orphan diseases
topic orphan diseases
machine learning
rare diseases
clinical registries
observation programs
real-world data
rwd
rwe
url https://www.myrwd.ru/jour/article/view/46
work_keys_str_mv AT nydmitrieva machinelearningcapabilitiesforthediagnosisoforphandiseases