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Performances of NIPT for copy number variations at different sequencing depths using the semiconductor sequencing platform

2 Jul 2021

Abstract excerpt

OBJECTIVE: To evaluate the performance of noninvasive prenatal testing (NIPT) and NIPT-PLUS for the detection of genome-wide microdeletion and microduplication syndromes (MMSs) at different sequencing depths. The NIPT sequencing depth was 0.15X, and the data volume was 3 million reads; the NIPT-PLUS sequencing depth was 0.4X, and the data volume was 8 million reads. METHODS: A cohort of 50,679 pregnancies was...

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Share to Genomic variations and chromosomal abnormalities
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PMID: 34215332
DOI: 10.1186/s40246-021-00332-5

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