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Updated: Mar 11, 2026

T and B Cell Receptor Immune Repertoire Analysis using Next-generation Sequencing
Published on: January 12, 2021
VDJ-Insights: simplifying the annotation of genomic immunoglobulin and T cell receptor regions
Susan E Ott1, Giang N Le1, Sayed J Mohammadi1
1Biomedical Primate Research Centre, Rijswijk 2288 GJ, The Netherlands.
Motivation:
Accurate annotation of germline immunoglobulin (IG) and T cell receptor (TCR) loci is critical for understanding adaptive immunity.
Results:
VDJ-Insights provides a user-friendly software package for characterizing these complex immune regions. In addition, it assesses gene segment functionality, identifies recombination signal sequences, and annotates complementarity-determining regions 1 and 2. VDJ-Insights achieved over 99% concordance with curated annotations from multiple species, outperforming existing annotation tools. When applied to 95 haplotypes from the Human Pangenome Reference Consortium, VDJ-Insights identified 652 and 275 novel IG and TCR alleles, respectively, highlighting its scalability for large immunogenetic studies.
Availability And Implementation:
Datasets and software package are available in the VDJ-insights repository, https://github.com/BPRC-Bioinfo and https://doi.org/10.5281/zenodo.17588835. Additional intermediate datasets used and analyzed during the current study are available from the corresponding authors upon reasonable request.
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