Article
Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypes.
Archives of disease in childhood - 1 Jan 2021
Wei Heming, Lai Angeline, Tan Ee Shien, Koh Mark Jean Aan, Ng Ivy, Ting Teck Wah, Thomas Terrence, Cham Breana, Lim Jiin Ying, Kam Sylvia, Goh Chew Yin Jasmine, Lin Grace, Brett Maggie, Chan Derrick, Jamuar Saumya Shekhar, Tan Ene-Choo
Abstract excerpt
OBJECTIVE: To test the utility and diagnostic yield of a medical-exome gene panel for identifying pathogenic variants in Mendelian disorders. METHODS: Next-generation sequencing was performed with the TruSight One gene panel (targeting 4813 genes) followed by MiSeq sequencing on 216 patients who presented with suspected genetic disorders as assessed by their attending physicians. RESULTS: There were 56 pathogenic...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.