Exome sequencing and genome sequencing have the potential to improve clinical utility for
patients undergoing genetic investigations. However, evidence of clinical utility is limited to …

BACKGROUND Our genetic code is now readable, writable and hackable. The recent
escalation of genome-wide sequencing (GS) applications in population diagnostics will not …

Importance Early-onset atrial fibrillation (AF) can be the initial manifestation of a more
serious underlying inherited cardiomyopathy or arrhythmia syndrome. Objective To examine …

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 …

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 …

Abstract Background Polygenic risk scores (PRSs) are a summarization of an individual's
genetic risk for a disease or trait. These scores are being generated in research and …

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

Objectives To determine (1) the diagnostic yield and turnaround time (TAT) of two
consecutive prenatal exome sequencing (ES) pathways,(2) the evolution of the fetal …

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