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Table 2 Comparison of amplicon-based deep sequencing (ADS), targeted next-generation sequencing (NGS) and droplet digital polymerase chain reaction (ddPCR) for detection of mosaicism

From: Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations

  1. a RefSeq NM_020975.5, NP_066124.1
  2. # Notice the different performance of NGS for detecting mosaicism at depths over (red) and under (blue) 500X, as compared to ADS and ddPCR