To create KIARVA, we applied a high throughput genomic technique designed for adaptive immune receptor germline gene sequencing, ImmuneDiscover (Corcoran et al. BioRXiv), to 2481 cases from the 1000 Genomes Project (1KGP), https://www.internationalgenome.org/. The 1KGP sample set comprises 5 super-populations: 708 African cases (AFR), 414 European cases (EUR), 540 East Asian cases (EAS) and 539 South Asian cases (SAS) and 280 American cases (AMR) representing 25 sub-population groups. This resulted in the identification of 544 IGHV, 12 IGHJ and 70 IGHD germline variants, many of which are reported here for the first time, as well as information about their population frequencies and validation scores using the IgSNPer program. KIARVA will host downloadable IGHV, IGHD and IGHJ allele database files comprising sequences with and without flanking regions for use in highly accurate antibody sequence assignment analysis and gene association studies. Future updates of KIARVA will include immunoglobulin light chain (kappa and lambda) and TCR (alpha, beta, delta and gamma) variants from the 1KGP sample collection in addition to constant exon variants from each of the receptor subtypes.
Funding for this project was generously provided by a Distinguished Professor grant from the Swedish Research Council (2017-00968) and a European Research Council (ERC) Advanced Grant - ImmuneDiversity (788016) to GBKH.
For technical questions related to the website, please contact:
Data Science Node in Precision Medicine & Diagnostics—precisionmedicine@scilifelab.se
For questions related to the scientific content, please contact:
Martin Corcoran—Martin.Corcoran@ki.se
Gunilla Karlsson Hedestam—Gunilla.Karlsson.Hedestam@ki.se
