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bioRxiv · 10.1101/2025.08.15.670470

VDJ-Insights: simplifying the annotation of genomic IG and TCR regions

Ott, S. E.·Le, G. N.·Mohammadi, S. J.·Mittertreiner, J.·Pasini, E. M.·Bontrop, R. E.·de Groot, N. G.·Bruijnesteijn, J.
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Abstract

Accurate annotation of germline immunoglobulin (IG) and T cell receptor (TCR) loci is critical for understanding adaptive immunity. 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 (RSS), and annotates complementary-determining regions 1 and 2 (CDR1, CDR2). 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.

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Ott, S. E., Le, G. N., Mohammadi, S. J., Mittertreiner, J., Pasini, E. M., Bontrop, R. E., de Groot, N. G., Bruijnesteijn, J.. 2025-08-20. VDJ-Insights: simplifying the annotation of genomic IG and TCR regions. https://doi.org/10.1101/2025.08.15.670470

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