Skip to main content
. Author manuscript; available in PMC: 2008 Jan 10.
Published in final edited form as: Gastroenterology. 2006 Oct 21;132(1):119–126. doi: 10.1053/j.gastro.2006.10.034

Figure 2. Comparison of nucleotide calls made by the resequencing chip and by standard capillary sequencing.

Figure 2

The top panel depicts the reference nucleotide sequence for SERPINA1 in red, the chip readout in black, and nucleotides identified by capillary sequencing. The T>C homozygous mutation identified by the chip (shaded in green) is reproduced by capillary sequencing. The same sequencing organization is presented for the other genes in the four lower panels. In JAG1, ATP8B1, and ABCB11, the chip produced heterozygous C/T calls (shown as a typical “y” symbol shaded in orange) that could be identified by red and blue peaks produced by capillary sequencing. In the lower panel, a homozygous A>T mutation in ABCB4 was identified by both methods. The mutations presented in this figure reflect the mutations described in patients #1,4,8,11 and 13 of Table 2.