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Article

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

Medicine - 11 Mar 2022

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

Abstract excerpt

ABSTRACT: 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 deoxyribonucleic acid (DNA) input and library preparation protocol (PCR-based vs PCR-free protocols for...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35451387
DOI: 10.1097/MD.0000000000028972
PMCID: PMC8913097

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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