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Test development, optimization and validation of a WGS pipeline for genetic disorders

BACKGROUND: With advances in massive parallel sequencing (MPS) technology, whole-genome sequencing (WGS) has gradually evolved into the first-tier diagnostic test for genetic disorders. However, deployment practice and pipeline testing for clinical WGS are lacking. METHODS: In this study, we introdu...

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Detalles Bibliográficos
Autores principales:	Yang, Ziying, Yang, Xu, Sun, Yan, Wang, Yaoshen, Song, Lijie, Qiao, Zhihong, Fang, Zhonghai, Wang, Zhonghua, Liu, Lipei, Chen, Yunmei, Yan, Saiying, Guo, Xueqin, Zhang, Junqing, Fan, Chunna, Liu, Fengxia, Peng, Zhiyu, Peng, Huanhuan, Sun, Jun, Chen, Wei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10077614/ https://www.ncbi.nlm.nih.gov/pubmed/37020281 http://dx.doi.org/10.1186/s12920-023-01495-x

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