Combined size- and count-based analysis of maternal plasma for detection of fetal subchromosomal aberrations

作者: Rossa Wai Kwun Chiu , Peiyong Jiang , Kwan Chee Chan , Cheuk Yin Jandy Yu , Yuk-Ming Dennis Lo

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摘要: An aberration in a fetal genome can be identified by analyzing sample of and maternal DNA. Classifications whether an (amplification or deletion) exists subchromosomal region are determined using count-based size-based methods. The count classification the size used combination to determine only fetus mother, both, have region, thereby avoiding false positives when mother has does not.

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