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Non-invasive prenatal testing by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions
Objective: 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. Method: We used known cases of pathogenic deletions from ISCA database to specifically define regions critical for the target syndromes. Our approach to detect microduplications, from whole genome sequencing data, is based on sample normalization anddoi:10.1101/686345 fatcat:icisiwotxrfkfezgcr3it4uadm