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 …

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 …

Purpose This study aimed to provide comprehensive diagnostic and candidate analyses in a
pediatric rare disease cohort through the Genomic Answers for Kids program. Methods …

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

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 …

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

Purpose Artificial intelligence (AI) and variant prioritization tools for genomic variant analysis
are being rapidly developed for use in clinical diagnostic testing. However, their clinical …

Next-generation sequencing has revolutionized rare disease diagnostics, but many patients
remain without a molecular diagnosis, particularly because many candidate variants usually …

Abstract Human Phenotype Ontology (HPO)-based approaches have gained popularity in
recent times as a tool for genomic diagnostics of rare diseases. However, these approaches …

Purpose The increased adoption of genomic strategies in the clinic makes it imperative for
diagnostic laboratories to improve the efficiency of variant interpretation. Clinical exome …