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

  1. Susan E. Ott
  2. Giang N. Le
  3. Sayed J. Mohammadi
  4. Jesse Mittertreiner
  5. Erica M. Pasini
  6. Ronald E. Bontrop
  7. Natasja G. de Groot
  8. Jesse Bruijnesteijn
Read the full article

Discuss this preprint

Start a discussion What are Sciety discussions?

Listed in

This article is not in any list yet, why not save it to one of your lists.
Log in to save this article

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.

Article activity feed

  1. Version published to 10.1101/2025.08.15.670470 on bioRxiv