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

Internet

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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