Bioinformatics (Oxford, England) · 2026
VDJ-Insights: simplifying the annotation of genomic immunoglobulin and T cell receptor regions.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Ott Susan E, Le Giang N, Mohammadi Sayed J, Mittertreiner Jesse, Pasini Erica M, Bontrop Ronald E, de Groot Natasja G, Bruijnesteijn Jesse
Аннотация
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.
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.