Fig 4. Comparison of nucleotide calls made by the resequencing chip and by standard capillary sequencing.

The top panel depicts the reference nucleotide sequence in red, the chip readout in black, and nucleotides identified by capillary sequencing. (A) The c.104–1G>A heterozygous mutation identified by the chip (shaded in orange) was reproduced by capillary sequencing in patient 1^#. (B and C) The intensity data for the “no call” base position can also be displayed as traces. The missense mutation G>A was successfully detected (C) and verified by direct sequencing (B) in patient 5^#.