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Microdeletions can be detected using MDiGS. (A) Deletions with breakpoints within the MDiGS targeted capture regions of (A) PITX1 and (C) HOXC were detected with CNV-seq analysis. (B and D) Exact locations of both 5′ and 3′ CNV breakpoints were mapped with OEA read analysis and UCSC BLAT.
