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 …

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 …

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

Novel gene-disease discoveries, rapid advancements in technology, and improved
bioinformatics tools all have the potential to yield additional molecular diagnoses through …

Whole-Exome Sequencing (WES) has proven valuable in the characterization of underlying
genetic defects in most rare diseases (RDs). Copy Number Variants (CNVs) were initially …

About 6000 to 7000 different rare disorders with suspected genetic etiologies have been
described and almost 4500 causative gene (s) have been identified. The advent of next …

Background: Clinical and molecular data on the occurrence and frequency of inherited
neuromuscular disorders (NMD) in the Lebanese population is scarce. Objective: This study …

Iterative re-analysis of NGS results is not well investigated for published research cohorts of
rare diseases. We revisited a cohort of 152 consanguineous families with developmental …

With the introduction of Next Generation Sequencing (NGS) techniques increasing numbers
of disease-associated variants are being identified. This ongoing progress might lead to …