NGS of Full-length KIR Genes

NGS of Full-length KIR Genes


  • Characterize the nature and extent of KIR allelic diversity across human populations using Next Generation Sequencing (NGS).
  • Perform high-resolution KIR genotyping in families from diverse populations in order to define phased KIR haplotypes through segregation analysis.


Although hundreds of populations have been investigated for KIR gene content diversity, only a handful have been resolved to any allelic resolution. In contrast, during the last 50 years HLA allelic diversity has been widely studied with millions of individuals characterized. The reasons for this disparity are that the KIR region is more recently discovered and has proved technically challenging to analyze. The combination of high levels of both gene-content variation and homology between many loci has until recently been a barrier to the development of high-throughput, high-resolution genotyping methods. The use of NGS promises to overcome these obstacles and advance the field by enabling large-scale characterization of KIR allelic polymorphism and haplotype diversity.

The primary focus of the 17th IHWS will be Next Generation Sequencing (NGS) of HLA and KIR genes. We would like to invite investigators, institutions and laboratories to participate in the KIR component by performing NGS based testing for KIR and/or analysis of KIR NGS data using any NGS platforms (including and not restricted to Illumina, Ion Torrent, Roche 454, PacBio) and software analysis packages that have been developed for KIR genotyping. We welcome study of samples from individuals representing diverse worldwide populations. In order to characterize KIR haplotypes at high resolution, we also encourage genotyping of families. All participants performing genotyping locally will be asked to validate methods using a small control panel. Investigators can also participate in this component by submission of DNA specimens to be tested by a reference laboratory. All eligible specimens to be included in the study should include appropriate informed consent and be approved for participation by the local Institutional Review Board.

The laboratories performing testing will submit sequencing and genotype results electronically. There will be centralized data collection; this data may be distributed to other investigators that may utilize different software packages. All participant investigators are invited and encouraged to participate in the data analysis and preparation of manuscripts.


Component Leaders: Jill Hollenbach, Paul Norman
Component Counselors: Mary Carrington PhD
Liaison: Harriet Noreen CHS


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