Figure 1.

PCR validation study using the TSC panel. A PCR assay for INDEL detection is shown. (A) Arrows represent PCR primers. If a given segment of DNA is present (black box), a long PCR product (L) is produced. If it is absent, a short PCR product (S) is produced. (B) A PCR validation assay is shown for INDEL 647,421 located on chromosome 22 (also listed in Table 3 and Supplemental Table 2). The reference genome sequence indicated the presence of a 24-bp repeat of (AC)n at the coordinates given (Table 3). A trace from the TSC collection indicated that at least one individual from the Coriell panel lacked this DNA segment. Both alleles were identified in the Coriell panel of 24 individuals (Collins et al. 1999). Small (<10 bp) INDELs were located within predicted restriction sites and the PCR products were digested with an appropriate restriction enzyme to detect the INDEL (not shown).