TY - JOUR
T1 - High-Throughput Immunogenetics for Clinical and Research Applications in Immunohematology: Potential and Challenges
AU - Langerak, Anton W
AU - Brüggemann, Monika
AU - Davi, Frédéric
AU - Darzentas, Nikos
AU - van Dongen, Jacques J M
AU - Gonzalez, David
AU - Cazzaniga, Gianni
AU - Giudicelli, Véronique
AU - Lefranc, Marie-Paule
AU - Giraud, Mathieu
AU - Macintyre, Elizabeth A
AU - Hummel, Michael
AU - Pott, Christiane
AU - Groenen, Patricia J T A
AU - Stamatopoulos, Kostas
AU - EuroClonality-NGS Consortium
N1 - Copyright © 2017 by The American Association of Immunologists, Inc.
PY - 2017/5/15
Y1 - 2017/5/15
N2 - 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.
AB - 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.
KW - Journal Article
U2 - 10.4049/jimmunol.1602050
DO - 10.4049/jimmunol.1602050
M3 - Article
C2 - 28416603
SN - 0022-1767
VL - 198
SP - 3765
EP - 3774
JO - Journal of Immunology
JF - Journal of Immunology
IS - 10
ER -