Synthetic data as validation
This study leverages synthetic data as a validation set to reduce overfitting and ease the
selection of the best model in AI development. While synthetic data have been used for …
selection of the best model in AI development. While synthetic data have been used for …
[HTML][HTML] Estimating prevalence of rare genetic disease diagnoses using electronic health records in a children's hospital
K Herr, P Lu, K Diamreyan, H Xu, E Mendonca… - Human Genetics and …, 2024 - cell.com
Rare genetic diseases (RGDs) affect a significant number of individuals, particularly in
pediatric populations. This study investigates the efficacy of identifying RGD diagnoses …
pediatric populations. This study investigates the efficacy of identifying RGD diagnoses …
Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders
Patients with rare diseases often experience prolonged diagnostic delays. Ordering
appropriate genetic tests is crucial yet challenging, especially for general pediatricians …
appropriate genetic tests is crucial yet challenging, especially for general pediatricians …
Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies
C Faviez, X Chen, N Garcelon, M Zaidan… - BMC Medical Informatics …, 2024 - Springer
Background There are approximately 8,000 different rare diseases that affect roughly 400
million people worldwide. Many of them suffer from delayed diagnosis. Ciliopathies are rare …
million people worldwide. Many of them suffer from delayed diagnosis. Ciliopathies are rare …
Implications of mappings between International Classification of Diseases clinical diagnosis codes and Human Phenotype Ontology terms
Objective Integrating electronic health record (EHR) data with other resources is essential in
rare disease research due to low disease prevalence. Such integration is dependent on the …
rare disease research due to low disease prevalence. Such integration is dependent on the …
Generating Biomedical Knowledge Graphs from Knowledge Bases, Registries, and Multiomic Data
As large clinical and multiomics datasets and knowledge resources accumulate, they need
to be transformed into computable and actionable information to support automated …
to be transformed into computable and actionable information to support automated …
Implications of mappings between ICD clinical diagnosis codes and Human Phenotype Ontology terms
Objective: Integrating EHR data with other resources is essential in rare disease research
due to low disease prevalence. Such integration is dependent on the alignment of …
due to low disease prevalence. Such integration is dependent on the alignment of …
Computer Aided Genetic Variant Validation for Rare Diseases
MS Bradshaw - 2024 - search.proquest.com
Computer Aided Genetic Variant Validation for Rare Diseases Page 1 Computer Aided
Genetic Variant Validation for Rare Diseases by MS Bradshaw MS, University of Colorado …
Genetic Variant Validation for Rare Diseases by MS Bradshaw MS, University of Colorado …