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 …

Abstract The Human Phenotype Ontology (HPO, https://hpo. jax. org) was launched in 2008
to provide a comprehensive logical standard to describe and computationally analyze …

Advances in DNA sequencing technologies have resulted in a near doubling, in under 10
years, of the number of causal genes identified for inherited neuromuscular disorders …

EVIDENCE, an automated variant prioritization system, has been developed to facilitate
whole exome sequencing analyses. This study investigated the diagnostic yield of …

Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield
of patients with rare diseases. However, the cost and efforts required for reanalysis prevent …

Common data models solve many challenges of standardizing electronic health record
(EHR) data but are unable to semantically integrate all of the resources needed for deep …

Guidelines for variant interpretation include criteria for incorporating phenotype evidence,
but this evidence is inconsistently applied. Systematic approaches to using phenotype …

Neuromuscular disorders (NMDs) are a wide-ranging group of diseases that seriously affect
the quality of life of affected individuals. The development of next-generation sequencing …

Background Knowledge of the genetic variation underlying Primary Immune Deficiency
(PID) is increasing. Reanalysis of genome-wide sequencing data from undiagnosed patients …

Exploring the molecular basis of disease severity in rare disease scenarios is a challenging
task provided the limitations on data availability. Causative genes have been described for …