… most likely rare diseases based on a patient’s symptoms. We apply the method to retrospectively
diagnose a cohort of 187 rare disease patients with confirmed diagnosis. Subsequently …

… Hong Kong’s first computer-assisted patient identification tool for rare diseases, starting with
inborn … Our diagnostic algorithm achieved an unprecedented diagnostic rate of 92.3 – 96 % …

… aiming to support the diagnosis of rare diseases. … rare disease or a specific group of rare
diseases, while other tools aim to provide general diagnosis support for all rare diseases. …

… In the last decade, the emergence of innovative new therapies for these rare diseases [2]
has added to the challenge of early diagnosis and appropriate treatment of patients [3]. …

… Rare Diseases (RDs), which are defined as diseases … in diagnosing RDs. Clinical decision
support systems (CDSSs) for RDs are software systems to support clinicians in the diagnosis …

… in hand we diagnosed the rare diseases in RDD, Phenomizer, FindZebra, Diagnosis Pro
and … Computer-assisted initial diagnosis of rare diseases. PeerJ 4:e2211 https://doi.org/10.7717/…

… As such, this thesis sought an alternative approach, which aimed to augment the expert
diagnostic workflow during computer-assisted variant interpretation by facilitating interaction …

… First, the process of diagnosing a rare disease is often long and exhausting. In 25% … diagnostic
tools can also help to reduce the time and costs associated with diagnosing rare diseases …

… computer-assisted diagnosis is out¬ … The first diagnostic device, a slide rule with lists of
signs, symptoms, and diagnoses, was described in 1954. Shortly thereafter, notched cards were …

… potential to highlight the possibility of rare disease to physicians early in the course of a …
early rare disease suggestions can facilitate earlier diagnosis. An early suggestion of diseases …