Whole-genome sequencing (WGS) is positioned to become one of the most robust
strategies for achieving timely diagnosis of rare genomic diseases. Despite its favorable …

Genome and exome sequencing (GS/ES) are increasingly being used in pediatric contexts.
We summarize evidence regarding the actual and perceived understanding of GS/ES of …

Access to active search for actionable secondary findings (SF) in diagnostic practice is a
major psychological and ethical issue for genomic medicine. In this study, we analyzed the …

Purpose Patients undergoing clinical exome sequencing (ES) are routinely offered the
option to receive secondary findings (SF). However, little is known about the views of …

In pediatric oncology, genetic and genomic tests are proposed throughout the care pathway
for many reasons (eg, cancer characterization, identification of the most appropriate …

Research on the perspectives of patients and parents regarding genetic testing and its
implications has been performed mostly in Europe, Canada, the United States, Australia and …

Next-generation sequencing (NGS) has revolutionized personalized medicine and is being
applied routinely in clinical diagnostics for oncology, congenital diseases, microbiology, and …

Copy number variants (CNV) are shown to contribute to the etiology of several genetic
disorders. Accurate detection of CNVs on whole exome sequencing (WES) data has been a …

Prenatal DNA tests, such as chromosomal microarray analysis or exome sequencing,
increase the likelihood of receiving a diagnosis when fetal structural anomalies are …

With next generation sequencing, physicians are faced with more complex and uncertain
data, particularly incidental findings (IF). Guidelines for the return of IF have been published …