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

Annals of human genetics - 1 Sept 2014

Gui Hongsheng, Bao Jessie Yunjuan, Tang Clara Sze-Man, So Man-Ting, Ngo Diem-Ngoc, Tran Anh-Quynh, Bui Duc-Hau, Pham Duy-Hien, Nguyen Thanh-Liem, Tong Amy, Lok Si, Sham Pak-Chung, Tam Paul Kwong-Hang, Cherny Stacey S, Garcia-Barcelo Maria-Mercè

Abstract excerpt

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...

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PMID: 24947032
DOI: 10.1111/ahg.12076

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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