Clinical-grade gene curation strategy in the development of short stature related gene panel by next generation sequencing

VernacularTitle:临床级致病基因的审核归档策略及其在下一代测序研究矮小症遗传病因中的应用实例
Author: Xuyun HU ; Baoheng GUI ; Hongdou LI ; Niu LI ; Ruen YAO ; Tingting YU ; Xin FAN ; Shaoke CHEN ; Xiumin WANG ; Jian WANG ; Yiping SHEN
Keywords: Growth disorders; High-throughput nucleotide sequencing; Molecular diagnostic techniques
From: Chinese Journal of Laboratory Medicine 2017;40(7):500-504
CountryChina
Language:Chinese
Abstract: Objective Design short stature panel with gene curration strategy.Methods The gene curation process was introduced in detail.The strength of a gene-disease relationship was evaluated based on publicly available genetic and experimental evidence.This process in short stature panel design and its effect on gene selection was further demonstrated.Results After gene curation, the number of gene in list was effectively decreased from 1 276 to 705.The panel sequencing reached a diagnosis rate of 19.7% among a cohort of 371 nation-wide ascertained short stature patients.The gene curation process reduced the risk of false positive findings and decreased diagnostic cost and working hours without affecting the diagnosis rate.Conclusion Gene curation is an important step for NGS-based test and should be widely exercised.