Article
Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits.
Clinical genetics - 1 Dec 2018
Al-Nabhani Maryam, Al-Rashdi Samiya, Al-Murshedi Fathiya, Al-Kindi Adila, Al-Thihli Khalid, Al-Saegh Abeer, Al-Futaisi Amna, Al-Mamari Watfa, Zadjali Fahad, Al-Maawali Almundher
Abstract excerpt
Recently, with the advancement in next generation sequencing (NGS) along with the improvement of bioinformatics tools, whole exome sequencing (WES) has become the most efficient diagnostic test for patients with intellectual disability (ID). This study aims to estimate the yield of a reanalysis of ID negative exome cases after data reannotation. Total of 50 data files of exome sequencing, representing 50 samples...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.