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CMA Detection

CMA Detection
variation (CNV), uniparental diploidy (UPD), loss of heterozygosity (LOH), mosaicism, etc., such as Fancomi anemia or VACTERL syndrome caused by CNV; UPD caused Angelman syndrome, Prader Willi ...

Clinical WES

Clinical WES
At present, there are more than 20,000 human genes have been discovered, with a total of more than 180,000 exons. Genes are composed of exons and introns, where exons are DNA regions directly ...
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