Background Electronic health records (EHRs) enable health data exchange across
interconnected systems from varied settings. Epic is among the 5 leading EHR providers …

Missense variants in genes encoding ion channels are associated with a spectrum of severe
diseases. Variant effects on biophysical function correlate with clinical features and can be …

Summary The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema
was released in 2022 and approved by ISO as a standard for sharing clinical and genomic …

Diagnosis for rare genetic diseases often relies on phenotype-driven methods, which hinge
on the accuracy and completeness of the rare disease phenotypes in the underlying …

Background Interpreting the pathogenicity of genetic variants associated with rare diseases
is a laborious and time-consuming endeavour. To streamline the diagnostic process and …

The Mendelian Phenotype Search Engine (MPSE), a clinical decision support tool using
Natural Language Processing and Machine Learning, helped neonatologists expedite …

Clinical notes from electronic health records (EHRs) contain a large amount of clinical
phenotype data on patients that can provide insights into the phenotypic presentation of …

Background Missense variants in genes encoding voltage-gated sodium channels are
associated with a spectrum of severe diseases affecting neuronal and muscle cells, the so …

Background: Well-organised electronic health records (EHR) are essential for high quality
patient care, but EHR user interfaces can be cumbersome for entry of structured information …

Background The rapid development of high-throughput sequencing technology has
revolutionized the diagnosis and understanding of genetic diseases. However, the …