Article

Noninvasive Detection of Fetal Genetic Variations through Polymorphic Sites Sequencing of Maternal Plasma DNA

2021-01-29

Abstract excerpt

Non-invasive prenatal testing (NIPT) for common fetal aneuploidies using circulating cell free DNA in maternal plasma has been widely adopted in clinical practice for its sensitivity and accuracy. However, the detection of subchromosomal abnormalities or monogenetic variations showed no cost-effectiveness or satisfactory accuracy. Here we developed an assay, the goodness-of-fit and graphical analysis of polymorphi...

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Literature Corpus work: 5ea75b72-f78d-5154-8c54-1e0d446f2341
DOI: 10.1101/2021.01.26.21250573

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