Genomics is advancing towards data-driven science. Through the advent of high-throughput
data generating technologies in human genomics, we are overwhelmed with the heap of …

Despite advances in high-throughput sequencing that have revolutionized the discovery of
gene defects in rare Mendelian diseases, there are still gaps in translating individual …

Artificial Intelligence revolutionizes the drug development process that can quickly identify
potential biologically active compounds from millions of candidate within a short period. The …

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 …

Human Phenotype Ontology (HPO)-based analysis has become standard for genomic
diagnostics of rare diseases. Current algorithms use a variety of semantic and statistical …

Next-generation sequencing (NGS) technologies have changed the landscape of genetic
testing in rare diseases. However, the rapid evolution of NGS technologies has outpaced its …

It's challenging work to identify disease-causing genes from the next-generation sequencing
(NGS) data of patients with Mendelian disorders. To improve this situation, researchers have …

A molecular diagnosis from the analysis of sequencing data in rare Mendelian diseases has
a huge impact on the management of patients and their families. Numerous patient …

Abstract Human Phenotype Ontology (HPO) terms are increasingly used in diagnostic
settings to aid in the characterization of patient phenotypes. The HPO annotation database …

Rare disease diagnostics and disease gene discovery have been revolutionized by whole‐
exome and genome sequencing but identifying the causative variant (s) from the millions in …