Targeted next-generation sequencing on Hirschsprung disease: a pilot study exploits DNA pooling.

@article{Gui2014TargetedNS,
  title={Targeted next-generation sequencing on Hirschsprung disease: a pilot study exploits DNA pooling.},
  author={Hongsheng Gui and Jessie Yunjuan Bao and Clara Sze-Man Tang and Man-ting So and Diem-Ngoc Ngo and Anh-Quynh Tran and Duc-Hau Bui and Duy-Hien Pham and Thanh-Li{\^e}m Nguy{\^e}n and Amy Tong and S Y Lok and Pak C. Sham and Paul Kwong-hang Tam and Stacey Shawn Cherny and Maria-Merc{\`e} Garcia-Barcelo},
  journal={Annals of human genetics},
  year={2014},
  volume={78 5},
  pages={381-7}
}
To adopt an efficient approach of identifying rare variants possibly related to Hirschsprung disease (HSCR), a pilot study was set up to evaluate the performance of a newly designed protocol for next generation targeted resquencing. In total, 20 Chinese HSCR patients and 20 Chinese sex-matched individuals with no HSCR were included, for which coding sequences (CDS) of 62 genes known to be in signaling pathways relevant to enteric nervous system development were selected for capture and… CONTINUE READING