DOI 10.1186/s13104-015-1740-5

Preliminary evaluation of exome sequencing to identify genetic markers of susceptibility to tuberculosis disease Carla Duncan1, Frances Jamieson1,2 and Carolina Mehaffy3* Background: Recent studies have shown that certain human genetic polymorphisms could be associated with susceptibility to tuberculosis (TB) infection and disease. Advances in next generation sequencing include the ability to rapidly sequence the entire human exome. These new technologies can be exploited to identify new associations of human genetic polymorphisms and TB infection and disease. In this preliminary study we compared two different strategies for sequencing of the human exome in a small sample set consisting of three individuals with a history of TB disease and two individuals with latent TB infection. Findings: Sequencing of the entire exome of the five participants using Agilent SureSelect kit resulted in the iden‑ tification of 1611 single nucleotide polymorphisms (SNPs) that were only present in the individuals with a history of active TB but not in the latent TB cases. Alternatively, sequencing of 4000 target genes available in the TruSight kit resulted in identification of 182 SNPs only present in the active TB cases and not in the latent TB participants. The overlap of the two kits was 112 SNPs. Conclusions: Even though this pilot study was restricted to a small number of participants, we demonstrated the feasibility of using exome sequencing technologies to mine potential genetic associations of susceptibility to TB dis‑ ease and presented a number of potential targets that can be further explore in larger research trials