Performance characterization of PCR-free whole genome sequencing for clinical diagnosis

To evaluate the performance of polymerase chain reaction (PCR)-free whole genome sequencing (WGS) for clinical diagnosis, and thereby revealing how experimental parameters affect variant detection. Five NA12878 samples were sequenced using MGISEQ-2000. NA12878 samples underwent WGS with differing de...

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Detalles Bibliográficos
Autores principales: Zhou, Guiju, Zhou, Meizhen, Zeng, Fanwei, Zhang, Ningzhi, Sun, Yan, Qiao, Zhihong, Guo, Xueqin, Zhou, Shihao, Yun, Guojun, Xie, Jiansheng, Wang, Xiaodan, Liu, Fengxia, Fan, Chunna, Wang, Yaoshen, Fang, Zhonghai, Tian, Zhongming, Dai, Wentao, Sun, Jun, Peng, Zhiyu, Song, Lijie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
3500
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8913097/
https://www.ncbi.nlm.nih.gov/pubmed/35451387
http://dx.doi.org/10.1097/MD.0000000000028972

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