AIMC Topic: Rare Diseases

Clear Filters Showing 41 to 50 of 116 articles

[Artificial intelligence in the diagnosis of rare disorders: the development of phenotype analysis].

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz Oct 24, 2022
Rare diseases can often be diagnosed by carefully assessing the phenotype of the patient, as characteristic deviations (dysmorphisms) occur in many genetic diseases. These affect, for example, the features of the face - the "facial gestalt."This pape...
Germany Rare Diseases Humans Neural Networks, Computer Artificial Intelligence Phenotype
View on PubMed DOI

Deep learning for rare disease: A scoping review.

Journal of biomedical informatics Oct 17, 2022
Although individually rare, collectively more than 7,000 rare diseases affect about 10% of patients. Each of the rare diseases impacts the quality of life for patients and their families, and incurs significant societal costs. The low prevalence of e...
Humans Neural Networks, Computer Nervous System Diseases Rare Diseases Quality of Life Deep Learning
View on PubMed DOI

OARD: Open annotations for rare diseases and their phenotypes based on real-world data.

American journal of human genetics Aug 22, 2022
Diagnosis for rare genetic diseases often relies on phenotype-driven methods, which hinge on the accuracy and completeness of the rare disease phenotypes in the underlying annotation knowledgebase. Existing knowledgebases are often manually curated w...
Humans Natural Language Processing Phenotype Rare Diseases Electronic Health Records
View on PubMed DOI

Exploring deep learning methods for recognizing rare diseases and their clinical manifestations from texts.

BMC bioinformatics Jul 6, 2022
BACKGROUND AND OBJECTIVE: Although rare diseases are characterized by low prevalence, approximately 400 million people are affected by a rare disease. The early and accurate diagnosis of these conditions is a major challenge for general practitioners...
Humans Language Rare Diseases Deep Learning Natural Language Processing
View on PubMed DOI

Artificial intelligence in bladder cancer: current trends and future possibilities.

Chinese medical journal Apr 5, 2022
Urinary Bladder Neoplasms Rare Diseases Humans Artificial Intelligence Forecasting
View on PubMed DOI

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.

Nature genetics Feb 10, 2022
Many monogenic disorders cause a characteristic facial morphology. Artificial intelligence can support physicians in recognizing these patterns by associating facial phenotypes with the underlying syndrome through training on thousands of patient pho...
Rare Diseases Phenotype Face Neural Networks, Computer Artificial Intelligence Humans
View on PubMed DOI

Knowledge-based approaches to drug discovery for rare diseases.

Drug discovery today Oct 27, 2021
The conventional drug discovery pipeline has proven to be unsustainable for rare diseases. Herein, we discuss recent advances in biomedical knowledge mining applied to discovering therapeutics for rare diseases. We summarize current chemogenomics dat...
Rare Diseases Artificial Intelligence Drug Discovery Humans Machine Learning Knowledge Bases
View on PubMed DOI

The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems.

Orphanet journal of rare diseases Oct 22, 2021
BACKGROUND: Rare diseases (RD) are a diverse collection of more than 7-10,000 different disorders, most of which affect a small number of people per disease. Because of their rarity and fragmentation of patients across thousands of different disorder...
Pilot Projects Humans Rare Diseases Costs and Cost Analysis Machine Learning Delivery of Health Care
View on PubMed DOI

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.

Genome medicine Oct 14, 2021
BACKGROUND: Clinical interpretation of genetic variants in the context of the patient's phenotype is becoming the largest component of cost and time expenditure for genome-based diagnosis of rare genetic diseases. Artificial intelligence (AI) holds p...
Genotype Databases, Genetic Exome Sequencing Rare Diseases Male Genomics Retrospective Studies Artificial Intelligence Female Phenotype Humans
View on PubMed DOI

A Survey of Autoencoder Algorithms to Pave the Diagnosis of Rare Diseases.

International journal of molecular sciences Oct 8, 2021
Rare diseases (RDs) concern a broad range of disorders and can result from various origins. For a long time, the scientific community was unaware of RDs. Impressive progress has already been made for certain RDs; however, due to the lack of sufficien...
Prognosis Machine Learning Humans Rare Diseases High-Throughput Nucleotide Sequencing Algorithms Neural Networks, Computer
View on PubMed DOI
Popular Topics
Recent Journals