Article

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

2020-06-20

Abstract excerpt

<h4>Purpose</h4> To evaluate the performance of PCR-free whole genome sequencing (WGS) for clinical diagnosis, and thereby revealing how experimental parameters affect variant detection. <h4>Methods</h4> All the 5 NA12878 samples were sequenced using MGISEQ-2000. NA12878 samples underwent WGS with differing DNA input and library preparation protocol (PCR-based versus PCR-free protocols for library preparation)....

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Literature Corpus work: 6fb56779-e3ba-56c2-b9be-99d63b970d32
DOI: 10.1101/2020.06.19.160739

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