High-Throughput Immunogenetics for Clinical and Research Applications in Immunohematology: Potential and Challenges.

Abstract

Analysis and interpretation of Ig and TCR gene rearrangements in the conventional, low-throughput way have their limitations in terms of resolution, coverage, and biases. With the advent of high-throughput, next-generation sequencing (NGS) technologies, a deeper analysis of Ig and/or TCR (IG/TR) gene rearrangements is now within reach, which impacts on all main applications of IG/TR immunogenetic analysis. To bridge the generation gap from low- to high-throughput analysis, the EuroClonality-NGS Consortium has been formed, with the main objectives to develop, standardize, and validate the entire workflow of IG/TR NGS assays for 1) clonality assessment, 2) minimal residual disease detection, and 3) repertoire analysis. This concerns the preanalytical (sample preparation, target choice), analytical (amplification, NGS), and postanalytical (immunoinformatics) phases. Here we critically discuss pitfalls and challenges of IG/TR NGS methodology and its applications in hemato-oncology and immunology.

DOI: 10.4049/jimmunol.1602050

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@article{Langerak2017HighThroughputIF, title={High-Throughput Immunogenetics for Clinical and Research Applications in Immunohematology: Potential and Challenges.}, author={Anton W. Langerak and Monika Br{\"{u}ggemann and Frederic Davi and Nikos Darzentas and Jacques J M van Dongen and David Rodriguez Gonzalez and Gianni Cazzaniga and V{\'e}ronique Giudicelli and Marie-Paule Lefranc and Mathieu Giraud and Elizabeth A Macintyre and Michael Hummel and Christiane Pott and Patricia J. T. A. Groenen and Kostas Stamatopoulos}, journal={Journal of immunology}, year={2017}, volume={198 10}, pages={3765-3774} }