[HTML][HTML] 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 …

Electronic health records for the diagnosis of rare diseases

N Garcelon, A Burgun, R Salomon, A Neuraz - Kidney international, 2020‏ - Elsevier
With the emergence of electronic health records, the reuse of clinical data offers new
perspectives for the diagnosis and management of patients with rare diseases. However …

[PDF][PDF] Connecting systems, data, and people: A multidisciplinary research roadmap for chronic disease management.

I Bardhan, H Chen, E Karahanna - MIS Quarterly, 2020‏ - researchgate.net
Chronic diseases (such as diabetes, asthma, heart disease, lung disease, cancer,
depression, stroke, hypertension, and Alzheimer's) are responsible for seven out of ten …

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenoty** and interpretation

MM Clark, A Hildreth, S Batalov, Y Ding… - Science translational …, 2019‏ - science.org
By informing timely targeted treatments, rapid whole-genome sequencing can improve the
outcomes of seriously ill children with genetic diseases, particularly infants in neonatal and …

Integrative pan-cancer genomic and transcriptomic analyses of refractory metastatic cancer

Y Pradat, J Viot, AA Yurchenko, K Gunbin… - Cancer …, 2023‏ - aacrjournals.org
Metastatic relapse after treatment is the leading cause of cancer mortality, and known
resistance mechanisms are missing for most treatments administered to patients. To bridge …

The prediction of hospital length of stay using unstructured data

J Chrusciel, F Girardon, L Roquette… - BMC medical informatics …, 2021‏ - Springer
Objective This study aimed to assess the performance improvement for machine learning-
based hospital length of stay (LOS) predictions when clinical signs written in text are …

French administrative health care database (SNDS): the value of its enrichment

LM Scailteux, C Droitcourt, F Balusson, E Nowak… - Therapies, 2019‏ - Elsevier
SNIIRAM/SNDS, the French administrative health care database, covers around 99% of the
population. Its main limitation is the absence of clinical information and biological results …

[HTML][HTML] Trends and opportunities in computable clinical phenoty**: a sco** review

T He, A Belouali, J Patricoski, H Lehmann… - Journal of Biomedical …, 2023‏ - Elsevier
Identifying patient cohorts meeting the criteria of specific phenotypes is essential in
biomedicine and particularly timely in precision medicine. Many research groups deliver …

[HTML][HTML] Hepatobiliary complications in children with sickle cell disease: a retrospective review of medical records from 616 patients

S Allali, M de Montalembert, V Brousse… - Journal of clinical …, 2019‏ - mdpi.com
Hepatobiliary complications in children with sickle cell disease (SCD) are rarely reported but
can be life-threatening. We retrospectively assessed their prevalence in a cohort of 616 …

An automatic facial landmarking for children with rare diseases

Q Hennocq, T Bongibault, M Bizière… - American Journal of …, 2023‏ - Wiley Online Library
Two to three thousand syndromes modify facial features: their screening requires the eye of
an expert in dysmorphology. A widely used tool in shape characterization is geometric …