HLAssign 2.0: An advanced Graphical User Interface for the analysis of short and long read Human Leukocyte Antigen-typing data

Abstract

Next Generation Sequencing (NGS) based Human Leukocyte Antigen (HLA) typing has been a challenge due to the polymorphism of the HLA region. Nevertheless, the methods accuracy has increased during the last years and it is now routinely used by many large centers including bone marrow registries. However, challenging HLA genotype compositions exist, which hinder a fully automated analysis. Therefore, HLA typing results are still visually inspected in diagnostics, i.e. the underlying read mappings and phasing information is controlled. Here, we present HLAssign 2.0 that now includes a strict workflow, improved tools for visual inspection and read phasing analysis in the automatic caller. In collaboration with interface design researchers, biologists and informaticians we developed an elaborate graphical user interface for visual evaluation of automated HLA calls for Illumina NGS reads. We also provide tools to preprocess 10x Genomics and PacBio sequencing reads for HLAssign analysis. We benchmarked our automatic caller against STC-seq and xHLA, showing comparable automatic call rates. Additional manual inspection of the automatic results in our GUI assists the user to assign the correct HLA calls and to achieve diagnostic accuracy. HLAssign 2.0 is free for research and commercial use and is available for Windows and MacOS.