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 (ES) in the clinical setting of inborn metabolic diseases (IMDs) has
created tremendous improvement in achieving an accurate and timely molecular diagnosis …

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 …

Background Approximately two third of patients with a rare genetic disease remain
undiagnosed after exome sequencing (ES). As part of our post-test counseling procedures …

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

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 …

To assess the potential of detecting copy number variations (CNVs) directly from exome
sequencing (ES) data in diagnostic settings, we developed a CNV-detection pipeline based …

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

Abstract Purpose Within the Solve-RD project (https://solve-rd. eu/), the European Reference
Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to …