Geny: a genotyping tool for allelic decomposition of killer cell immunoglobulin-like receptor genes
We evaluated Geny on a large set of simulated short-read datasets covering the known validated KIR region assemblies and a set of Illumina short-read samples sequenced from 40 validated samples from the Human Pangenome Reference Consortium collection and showed that it outperforms the existing state-of-the-art KIR genotyping tools in terms of accuracy, precision, and recall. We envision Geny becoming a valuable resource for understanding immune system response and consequently advancing the field of patient-centric medicine.
Authors
- Qing-Hui Zhou (ORCID: https://orcid.org/0000-0002-8772-994X)
- S. Cenk Şahinalp (ORCID: https://orcid.org/0000-0002-5050-0682)
- Mazyar Ghezelji
- Ibrahim Numanagić (ORCID: https://orcid.org/0000-0002-2970-7937)
- Ananth Hari (ORCID: https://orcid.org/0000-0001-8174-5335)
- Michael K.B. Ford
- Connor Holley
Institutions
- University of Victoria (CA)
- National Cancer Institute (US)
- University of Maryland, College Park (US)
Publication Details
- Journal
- Frontiers in Immunology
- Published
- 2024-12-23
- DOI
- https://doi.org/10.3389/fimmu.2024.1494995
- Citations
- 2
- Primary Topic
- Immune Cell Function and Interaction
- Type
- article
- Field-Weighted Citation Impact
- 0.48
Funders
- Canada Foundation for Innovation
- Canada Research Chairs
- Natural Sciences and Engineering Research Council of Canada
- British Columbia Knowledge Development Fund
- National Cancer Institute