Abstract Purpose For neurodevelopmental disorders (NDDs), etiological evaluation can be a
diagnostic odyssey involving numerous genetic tests, underscoring the need to develop a …

Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …

Despite advances in clinical genetic testing, including the introduction of exome sequencing
(ES), more than 50% of individuals with a suspected Mendelian condition lack a precise …

Exome sequencing and genome sequencing have the potential to improve clinical utility for
patients undergoing genetic investigations. However, evidence of clinical utility is limited to …

Objective Clinical genetic sequencing is frequently utilized to diagnose individuals with
neurodevelopmental disorders (NDDs). Here we perform a meta‐analysis and systematic …

The evidence base supporting genetic and genomic sequence-variant interpretations is
continuously evolving. An inherent consequence is that a variant's clinical significance might …

Background Our primary aim was to evaluate the systematic reanalysis of singleton exome
sequencing (ES) data for unsolved cases referred for any indication. A secondary objective …

Exome sequencing (ES) has become one of the important diagnostic tools in clinical
genetics with a reported diagnostic rate of 25–58%. Many studies have illustrated the …

Re-analyzing genomic information from a patient suspected of having an underlying genetic
condition can improve the diagnostic yield of sequencing tests, potentially providing …

Background Whole-exome sequencing (WES) has become an efficient diagnostic test for
patients with likely monogenic conditions such as rare idiopathic diseases or sudden …