European journal of human genetics : EJHG
Jul 19, 2021
Patients with rare diseases are a major challenge for healthcare systems. These patients face three major obstacles: late diagnosis and misdiagnosis, lack of proper response to therapies, and absence of valid monitoring tools. We reviewed the relevan...
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 develop models to support early diagnosis and to establish natural history. Dr...
Acta paediatrica (Oslo, Norway : 1992)
Jun 19, 2021
Rare diseases occur globally at every stage of life. Patients, families and caregivers have many unmet medical and social needs leading to extraordinary psychosocial and economic burdens. Efforts to improve diagnostic capabilities and to develop ther...
AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science
May 17, 2021
Rare diseases affect between 25 and 30 million people in the United States, and understanding their epidemiology is critical to focusing research efforts. However, little is known about the prevalence of many rare diseases. Given a lack of automated ...
BACKGROUND: The complexity of the phenotypic characteristics and molecular bases of many rare human genetic diseases makes the diagnosis of such diseases a challenge for clinicians. A map for visualizing, locating and navigating rare diseases based o...
IMPORTANCE: The Undiagnosed Diseases Network (UDN) is a national network that evaluates individual patients whose signs and symptoms have been refractory to diagnosis. Providing reliable estimates of admission outcomes may assist clinical evaluators ...
Medical & biological engineering & computing
Jan 25, 2021
Deep learning (DL) has been successfully applied to the diagnosis of ophthalmic diseases. However, rare diseases are commonly neglected due to insufficient data. Here, we demonstrate that few-shot learning (FSL) using a generative adversarial network...
AMIA ... Annual Symposium proceedings. AMIA Symposium
Jan 25, 2021
The mortality prediction of diverse rare diseases using electronic health record (EHR) data is a crucial task for intelligent healthcare. However, data insufficiency and the clinical diversity of rare diseases make it hard for deep learning models to...
BACKGROUND: The Genetic and Rare Diseases (GARD) Information Center was established by the National Institutes of Health (NIH) to provide freely accessible consumer health information on over 6500 genetic and rare diseases. As the cumulative scientif...