Kourami
Kourami reconstructs HLA allele sequences and performs high-resolution typing of classical human leukocyte antigen (HLA) genes from high-coverage whole-genome sequencing (WGS) data to enable accurate typing and discovery of novel alleles.
Key Features:
- Graph-Guided Assembly: Employs a graph-guided assembly technique tailored to classical HLA genes to construct allele sequences from high-coverage whole-genome sequencing data.
- Novel Allele Discovery: Identifies and types alleles absent from existing allele databases, enabling discovery of novel HLA alleles.
- High Accuracy: Produces high-resolution HLA typing with accuracy comparable to state-of-the-art methods for both known and uncharacterized alleles.
Scientific Applications:
- Clinical Immunogenetics: Provides precise HLA genotypes for organ transplantation matching and studies of autoimmune disease.
- Research: Facilitates investigations of immune response mechanisms and genetic associations by supplying assembled HLA allele sequences.
Methodology:
Kourami uses a graph-based framework that integrates high-coverage whole-genome sequencing data to perform guided assembly of HLA allele sequences and to enable typing independent of existing allele databases.
Topics
Details
- License:
- BSD-3-Clause
- Tool Type:
- command-line tool
- Operating Systems:
- Linux
- Programming Languages:
- Shell, Java
- Added:
- 8/16/2018
- Last Updated:
- 12/10/2018
Operations
Publications
Lee H, Kingsford C. Kourami: graph-guided assembly for novel human leukocyte antigen allele discovery. Genome Biology. 2018;19(1). doi:10.1186/s13059-018-1388-2. PMID:29415772. PMCID:PMC5804087.
Funding: - Gordon and Betty Moore Foundation: GBMF4554
- Division of Computing and Communication Foundations: CCF-1256087, CCF-1319998
- National Human Genome Research Institute: R01HG007104