Artificial intelligence (AI) in rare diseases: is the future brighter?
S Brasil, C Pascoal, R Francisco, V dos Reis Ferreira… - Genes, 2019 - mdpi.com
The amount of data collected and managed in (bio) medicine is ever-increasing. Thus, there
is a need to rapidly and efficiently collect, analyze, and characterize all this information …
is a need to rapidly and efficiently collect, analyze, and characterize all this information …
Knowledge-based approaches to drug discovery for rare diseases
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 …
Herein, we discuss recent advances in biomedical knowledge mining applied to discovering …
A context-aware diversity-oriented knowledge recommendation approach for smart engineering solution design
To proactively fulfill multiple stakeholders' needs in the engineering solution design process,
the knowledge recommendation approach is adopted as a key element in the knowledge …
the knowledge recommendation approach is adopted as a key element in the knowledge …
Diagnosis support systems for rare diseases: a scoping review
Introduction Rare diseases affect approximately 350 million people worldwide. Delayed
diagnosis is frequent due to lack of knowledge of most clinicians and a small number of …
diagnosis is frequent due to lack of knowledge of most clinicians and a small number of …
Improving rare disease classification using imperfect knowledge graph
Background Accurately recognizing rare diseases based on symptom description is an
important task in patient triage, early risk stratification, and target therapies. However, due to …
important task in patient triage, early risk stratification, and target therapies. However, due to …
Diagnosis of Rare Diseases: a scoping review of clinical decision support systems
J Schaaf, M Sedlmayr, J Schaefer, H Storf - Orphanet journal of rare …, 2020 - Springer
Abstract Background Rare Diseases (RDs), which are defined as diseases affecting no more
than 5 out of 10,000 people, are often severe, chronic and life-threatening. A main problem …
than 5 out of 10,000 people, are often severe, chronic and life-threatening. A main problem …
Detecting rare diseases in electronic health records using machine learning and knowledge engineering: case study of acute hepatic porphyria
AM Cohen, S Chamberlin, T Deloughery, M Nguyen… - Plos one, 2020 - journals.plos.org
Background With the growing adoption of the electronic health record (EHR) worldwide over
the last decade, new opportunities exist for leveraging EHR data for detection of rare …
the last decade, new opportunities exist for leveraging EHR data for detection of rare …
[HTML][HTML] Patients' and doctors' perceptions of a mobile phone–based consultation service for maternal, neonatal, and infant health care in Bangladesh: a mixed …
Background: A mobile-based consultation service, or telehealth, can be used for remote
consultations with health care professionals for screening, self-care management, and …
consultations with health care professionals for screening, self-care management, and …
Improving early diagnosis of rare diseases using Natural Language Processing in unstructured medical records: an illustration from Dravet syndrome
T Lo Barco, M Kuchenbuch, N Garcelon… - Orphanet Journal of …, 2021 - Springer
Background The growing use of Electronic Health Records (EHRs) is promoting the
application of data mining in health-care. A promising use of big data in this field is to …
application of data mining in health-care. A promising use of big data in this field is to …
An artificial intelligence-based approach for identifying rare disease patients using retrospective electronic health records applied for Pompe disease
S Lin, J Nateqi, R Weingartner-Ortner, S Gruarin… - Frontiers in …, 2023 - frontiersin.org
Objective We retrospectively screened 350,116 electronic health records (EHRs) to identify
suspected patients for Pompe disease. Using these suspected patients, we then describe …
suspected patients for Pompe disease. Using these suspected patients, we then describe …