Purpose Clinical genome or exome sequencing (GS/ES) provides a diagnosis for many
individuals with suspected genetic disorders, but also yields negative or uncertain results for …

Due to the lack of empirical information on parental perceptions of primary results of whole
exome sequencing (WES), we conducted a retrospective semi-structured interview with 19 …

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 …

Exome sequencing is being offered for children with undiagnosed conditions to identify a
primary (causative) variant. Parental preferences for learning secondary (incidental) variants …

Whole exome sequencing (WES) is an integral tool in the diagnosis of genetic conditions in
pediatric patients, but concerns have been expressed about the complexity of the …

Purpose: This study investigated how genome sequencing results affect health behaviors,
affect, and communication. Methods: We report on 29 participants who received a sequence …

Purpose Exome sequencing (ES) can rapidly identify disease-causing variants responsible
for rare, single-gene diseases, and potentially reduce the duration of the diagnostic odyssey …

Clinical genome and exome sequencing (CGES) may identify variants leading to targeted
management of existing conditions. Yet, CGES often fails to identify pathogenic diagnostic …

Exome sequencing (ES) has revolutionized diagnostic procedures in medical genetics,
particularly for developmental diseases. The variety and complexity of the information …

Clinical exome sequencing (CES) is increasingly being used as an effective diagnostic tool
in the field of pediatric genetics. We sought to evaluate the parental experience …