Category Archives: Bioinformatics

Project: KIR copy number, allele, and haplotype imputation system

KIR copy number, allele, and haplotype imputation system Project leaders: Katsushi Tokunaga, Mary Carrington, Seik-Soon Khor (Charles) Detailed project description: With recent advances in next-generation sequencing (NGS) technology, KIR can now be characterized at a higher resolution, including KIR gene copy number (CN), allele, and complete KIR haplotype phasing. However, there are few SNPs in…

Project: SNP-HLA reference

SNP-HLA Reference Consortium Project leaders: Nicolas Vince & Pierre-Antoine Gourraud. Detailed project description: For the past 10 years, genome-wide association studies (GWAS) identified more than 10,000 associations; the HLA genomic region is the top associated locus in GWAS, particularly in immune-related diseases. SNPs are the hallmark of GWAS, however, the information of this type of…

Project: Haplotypes and pedigree analyses tools

Development op haplotype and pedigree analyses software tools Project leaders:┬áMartin Maiers Detailed project description: 18th IHIWS project on haplotypes and pedigree analysis tools The international HLA & Immunogenetics workshop has a rich tradition about the use of families to understand complex immunogenetics. ┬áDespite great progress in the field in terms of typing technology and computational…

Data Standards Hackathon

Project name: Data Standards Hackathon Project leaders:┬áMartin Maiers Detailed project description: We would like to invite everyone interested to attend the online DaSH 12 on February 17 & 18 2022, full details at github.com/nmdp-bioinformatics/dash/wiki. Please contact mwright@nmdp.org for an invitation. Historically, there have been few standards regarding HLA and KIR genotyping data, and associated meta-data,…