131-P: THOUSAND GENOMES AND HLA TYPING BY NGS: HIDDEN TREASURES IN PUBLIC SHORT READ DATA

Abstract

Aim One of the important goals of the 1000 Genomes project was to find common mutation in diverse populations with the help of next generation sequencing. Earlier, the HapMap project with similar goals made it possible not only to map frequent mutations but there are already publications about sequencing based HLA typing using NGS. Methods We are presenting a sufficiently fast algorithm using 1KG Illumina data to obtain HLA types for HLA-A, B, C, DRB1 and DQB1 genes. For validation the results of Sanger Capillary sequencing based HLA typingwas used for over thousand Coriell samples. Results According to our results it is possible to determine the correct HLA types from public 1KG whole-exome Illumina data with 90% or higher concordance if proper quality check measures are applied. We are also presenting the possible causes of mistyping. Conclusions The method opens perspectives for typing other systems like MICA, MICB and KIR.