Non-invasive prenatal testing as a valuable source of population specific allelic frequencies

Journal of Biotechnology(2019)

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摘要
•Low-coverage WGS based NIPT is a low-cost test rapidly adopted around the globe.•We re-used NIPT data for population specific frequency determination of DNA variants.•For this we used aggregation of reads from a large cohort of individuals.•Different lines of evidence suggested reliability of detected variant frequencies.•Our approach can improve generation of population specific genomic reference data sets.
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关键词
Low-coverage massively parallel whole-genome sequencing,Non-invasive prenatal testing,Population specific allelic frequencies
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