Article

Non-invasive prenatal testing by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions

2019-06-28

Abstract excerpt

<h4>Objective</h4> To study the detection limits of chromosomal microaberrations in non-invasive prenatal testing with aim for five target microdeletion syndromes, including DiGeorge, Prader-Willi/Angelman, 1p36, Cri-Du-Chat, and Wolf-Hirschhorn syndromes. <h4>Method</h4> We used known cases of pathogenic deletions from ISCA database to specifically define regions critical for the target syndromes. Our approach...

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Literature Corpus work: 1ca6a912-fd1c-5d4f-8895-2836ca6816de
DOI: 10.1101/686345

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