Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing.

Jun-Seok BaeNayoung K D KimChung LeeSang Cheol KimHey Ran LeeHae-Ryong SongKun-Bo ParkHyun Woo KimSoon Hyuck LeeHa Yong KimSoon Chul LeeChanghoon JeongMoon Seok ParkWon Joon YooChin Youb ChungIn Ho ChoiOk-Hwa KimWoong-Yang Park Tae-Joon Cho

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2015)

This study demonstrates the feasibility of TES for the molecular diagnosis of skeletal dysplasia. However, further confirmation is needed for a final molecular diagnosis, including Sanger sequencing of candidate variants with suspected, poorly captured exons.Genet Med 18 6, 563-569.

Keyphrases

copy number
single cell
genome wide
pulmonary embolism
single molecule
cancer therapy
gene expression
drug delivery