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Article

Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders.

BMC medical genomics - 13 Apr 2021

Sun Yan, Liu Fengxia, Fan Chunna, Wang Yaoshen, Song Lijie, Fang Zhonghai, Han Rui, Wang Zhonghua, Wang Xiaodan, Yang Ziying, Xu Zhenpeng, Peng Jiguang, Shi Chaonan, Zhang Hongyun, Dong Wei, Huang Hui, Li Yun, Le Yanqun, Sun Jun, Peng Zhiyu

Abstract excerpt

BACKGROUND: Due to its reduced cost and incomparable advantages, WGS is likely to lead to changes in clinical diagnosis of rare and undiagnosed diseases. However, the sensitivity and breadth of coverage of clinical WGS as a diagnostic test for genetic disorders has not been fully evaluated. METHODS: Here, the performance of WGS in NA12878, the YH cell line, and the Chinese trios were measured by assessing their...

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Share to Diagnostic Tests, Routine
Share to Genetic Diseases, Inborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genome, Human

Share to INDEL Mutation

Share to Polymorphism, Single Nucleotide

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Source

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Identifiers

PMID: 33849535
DOI: 10.1186/s12920-021-00948-5
PMCID: PMC8045368

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