76-P : ASSIGNING KIR TYPES FROM NGS SHORT READ DATA

Aim Killer-cell immunoglobulin-like receptors (KIRs) are one of the most polymorphic genes, and besides their sequence diversity there also a high homology among these receptors. This makes KIR typing exceptionally difficult and the picture is even more complex since not all KIR genes are present in an individual and one gene can be present in many copies. As next generation sequencing have spread to most of molecular genetic laboratories, there is a need for a method for KIR typing based on short reads. Methods As next generation sequencing have spread to most of molecular genetic laboratories, there is a need for a method for KIR typing based on short reads. Results We are presenting an algorithm to determine the KIR type from NGS samples. Conclusions The method is capable to predict the copy number of genes and we are also presenting quality check measures to estimate the goodness of typing.