Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders
characterized by impaired neuromuscular signal transmission due to germline pathogenic …

Purpose This meta-analysis aims to compare the diagnostic and clinical utility of exome
sequencing (ES) vs genome sequencing (GS) in pediatric and adult patients with rare …

Expanded accessibility of genetic sequencing technologies, such as chromosomal
microarray and massively parallel sequencing approaches, is changing the management of …

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 …

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 Clinical interpretation of genetic variants in the context of the patient's
phenotype is becoming the largest component of cost and time expenditure for genome …

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

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 …

Purpose The study aimed to determine the diagnostic yield, optimal timing, and
methodology of next generation sequencing data reanalysis in suspected Mendelian …

The evolving evidence base for the interpretation of variants identified in genetic and
genomic testing has presented the genetics community with the challenge of variant …