MCL pioneers a novel approach to pooled sequencing. We use PCR enrichment coupled with Illumina paired-end sequencing, and we sequence each pool with a coverage as high as 2000X. We aim to detect low-frequency variants from pools of up to 400 samples.
One powerful application of pooled sequencing is to perform case-control analysis on pooled sequencing data, to identify low-frequency SNPs (MAFs between 2% and 5%) not detected by even the large-scale genome wide association studies. Clients can sequence the top GWAS hits and identify potential low frequency SNP candidates.
MCL’s unique approach is to aim at detecting these low-frequency SNPs that may confer higher “risk impact” compared to that of common SNPs (MAF >5%). Once candidate SNPs are identified, MCL can perform follow-up genotyping to rapidly validate these SNPs to determine if they are indeed associated with phenotypes being studied.