Article
Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.
Human genomics - 14 Dec 2015
Lim Eileen C P, Brett Maggie, Lai Angeline H M, Lee Siew-Peng, Tan Ee-Shien, Jamuar Saumya S, Ng Ivy S L, Tan Ene-Choo
Abstract excerpt
BACKGROUND: Next-generation sequencing (NGS) has revolutionized genetic research and offers enormous potential for clinical application. Sequencing the exome has the advantage of casting the net wide for all known coding regions while targeted gene panel sequencing provides enhanced sequencing depths and can be designed to avoid incidental findings in adult-onset conditions. A HaloPlex panel consisting of 180...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.