For highly reliable confirmation of novel SNPs, it is recommended that a second assay-platform be used the validate the mutation. Following mutation discovery by sequencing, the most common secondary method is a SNP genotyping/allelic discrimination assay. SeqWright offers this 2-assay approach as an integrated package for high-confidence data suitable for any publication.

If a new mutation has been discovered in a patient panel, a valuable next step approach is to screen the mutation against the HapMap samples, available from the Coriell Institute, for any positive haplotype associations that may contribute to a particular disease or drug response. The HapMap panels are commercially available. SeqWright will provide consultation about which HapMap panel is most appropriate for a particular study and will screen the set for the new mutation.

SeqWright is experienced detecting low-frequency mutations in uneven mixtures, such as tumor samples and pooled DNA, as low as 10% using standard PCR and sequencing. Mixtures with mutations below 10% can be detected using a subcloning strategy.

Heterozygote insertion-deletions (indels) are detected by the frameshift in data and the loss of signal quality at the boundary. Again, the 10% threshold applies. The deconvoluted hetero-indel peak profiles are included in the final report.