biostudies-literatureAmorim LMNational Multiple Sclerosis SocietyNIAID NIH HHSCoordenação de Aperfeiçoamento de Pessoal de Nível SuperiorNINDS NIH HHSNational Institutes of HealthNIGMS NIH HHS674778https://www.ebi.ac.uk/biostudies/studies/S-EPMC8137979biostudies-literatureUnknown12The <i>KIR (killer-cell immunoglobulin-like receptor</i>) region is characterized by structural variation and high sequence similarity among genes, imposing technical difficulties for analysis. We undertook the most comprehensive study to date of <i>KIR</i> genetic diversity in a large population sample, applying next-generation sequencing in 2,130 United States European-descendant individuals. Data were analyzed using our custom bioinformatics pipeline specifically designed to address technical obstacles in determining <i>KIR</i> genotypes. Precise gene copy number determination allowed us to identify a set of uncommon gene-content <i>KIR</i> haplotypes accounting for 5.2% of structural variation. In this cohort, <i>KIR2DL4</i> is the framework gene that most varies in copy number (6.5% oFrontiers in immunologyHigh-Resolution Characterization of <i>KIR</i> Genes in a Large North American Cohort Reveals Novel Details of Structural and Sequence Diversity.PMC8137979T32 GM067547U01 AI090905U19NS095774, U01 AI090905U19 NS095774Augusto DGNemat-Gorgani NHollenbach JAParham POksenberg JRMarin WMFernandez-Vina MADandekar RAmorim LMMontero-Martin GCaillier SShams HNorman PJfalseHigh-Resolution Characterization of <i>KIR</i> Genes in a Large North American Cohort Reveals Novel Details of Structural and Sequence Diversity.The <i>KIR (killer-cell immunoglobulin-like receptor</i>) region is characterized by structural variation and high sequence similarity among genes, imposing technical difficulties for analysis. We undertook the most comprehensive study to date of <i>KIR</i> genetic diversity in a large population sample, applying next-generation sequencing in 2,130 United States European-descendant individuals. Data were analyzed using our custom bioinformatics pipeline specifically designed to address technical obstacles in determining <i>KIR</i> genotypes. Precise gene copy number determination allowed us to identify a set of uncommon gene-content <i>KIR</i> haplotypes accounting for 5.2% of structural variation. In this cohort, <i>KIR2DL4</i> is the framework gene that most varies in copy number (6.5% o2021-01-01T00:00:00Z20212026-04-08T07:11:57.213Z2022-02-10T11:59:24.117ZS-EPMC81379793402567310.3389/fimmu.2021.674778