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Article

Increase in diagnostic yield achieved for 174 whole-exome sequencing cases reanalyzed 1-2 years after initial analysis.

Clinica chimica acta; international journal of clinical chemistry - 1 Dec 2021

Liu Yingdi, Teng Yanling, Li Zhuo, Cui Jingyi, Liang Desheng, Wu Lingqian

Abstract excerpt

BACKGROUND: Some missed diagnoses have been presented in whole-exome sequencing (WES) analysis for cases with possible Mendelian diseases. To assess how much contributions of WES reanalysis might improve diagnostic yield, we reviewed the WES data of 174 undiagnosed cases. METHODS: We performed reanalysis with an updated bioinformatics pipeline involving better algorithms and updated databases so that CNVs and...

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PMID: 34560057
DOI: 10.1016/j.cca.2021.09.015

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