DATE: June 27, 2017
TIME: 8:00am PT, 11:00am ET

The purpose of this study is to identify genetic variants that influence cellular responses, and patterns of M.tb infection and growth in human alveolar macrophages.

We used next-generation RNA sequencing, and DNA genotyping to identify candidate genes and gene networks, reveal operative genetic variants and address genotype-RNA-cellular phenotype relationships in M.tb-infected human alveolar macrophage cultures on a genome-wide scale. The Ion AmpliSeq transcriptome assay enables highly sensitive and reproducible measurement of differential gene expression, facilitating downstream enables highly sensitive and reproducible measurement of differential gene expression, facilitating downstream network and component analysis. We follow up with custom designed AmpliSeq allelic expression assays on a selection of high priority genes, to quantitatively measure effects on expression, and characterize causal variants in individual donors. We then test the health related effects of these functional variants in existing human genome wide association studies of tuberculosis related phenotypes. Our overarching goal is to use this specific genetic and phenotypic information to guide tuberculosis vaccine development, and to better predict individual response.

• How to improve biomarker discovery using NGS
• Benefits of applying a targeted gene-expression based approach for studying genotype-RNA-cellular phenotype relationships
• How to implement the Ion AmpliSeq Human Transcriptome Gene Expression assay to guide vaccine development and predict individual response.

For Research Only. Not for use in diagnostic procedures.