Big data generated from exome sequencing (ES) and genome sequencing (GS) analyses
can be used to detect actionable and high‐penetrance variants that are not directly …

Neurogenetic diseases are rare genetic diseases in which neurological findings are
prominent. Whole exome sequencing (WES) has led to great advances in the understanding …

STUDY QUESTION What is the load, distribution and added clinical value of secondary
findings (SFs) identified in exome sequencing (ES) of patients with non-obstructive …

Background Familial adenomatous polyposis (OMIM# 175100) and MUTYH-associated
polyposis (OMIM# 608456) are rare cancer-prone disorders characterized by hundreds of …

The escalating adoption of Next Generation Sequencing (NGS) in clinical diagnostics
reveals genetic variations, termed secondary findings (SFs), with health implications beyond …

Exome sequencing (ES) may identify and report secondary findings that are unrelated to the
primary disease for which the patient underwent genetic testing, but are of potential value in …

Clinical exome sequencing (CES) has shown great utility in the diagnosis of Mendelian
disorders. CES can unravel secondary findings (SFs) unrelated to the primary diagnosis but …

Abstract In Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS)
approaches, incidental findings (IFs) or more precisely secondary findings (SFs) have …

Amaç: Araştırmamızda; BRCA1/BRCA2 varyantı saptanmamış meme kanseri hastaları
değerlendirilecektir. Bu hastaların germ hattı varyantları sınıflandırması yapılarak klinik …

Amaç: Tüm ekzom dizileme [whole exome sequencing (WES)], etiyolojisinde genetik ve
klinik heterojenite gösteren hastalıkların tanısında kullanılan etkili bir moleküler yöntemdir …