{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Amorim LM"],"funding":["National Multiple Sclerosis Society","NIAID NIH HHS","Coordenação de Aperfeiçoamento de Pessoal de Nível Superior","NINDS NIH HHS","National Institutes of Health","NIGMS NIH HHS"],"pagination":["674778"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8137979"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["12"],"pubmed_abstract":["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% o"],"journal":["Frontiers in immunology"],"pubmed_title":["High-Resolution Characterization of <i>KIR</i> Genes in a Large North American Cohort Reveals Novel Details of Structural and Sequence Diversity."],"pmcid":["PMC8137979"],"funding_grant_id":["T32 GM067547","U01 AI090905","U19NS095774, U01 AI090905","U19 NS095774"],"pubmed_authors":["Augusto DG","Nemat-Gorgani N","Hollenbach JA","Parham P","Oksenberg JR","Marin WM","Fernandez-Vina MA","Dandekar R","Amorim LM","Montero-Martin G","Caillier S","Shams H","Norman PJ"],"additional_accession":[]},"is_claimable":false,"name":"High-Resolution Characterization of <i>KIR</i> Genes in a Large North American Cohort Reveals Novel Details of Structural and Sequence Diversity.","description":"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% o","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021","modification":"2026-04-08T07:11:57.213Z","creation":"2022-02-10T11:59:24.117Z"},"accession":"S-EPMC8137979","cross_references":{"pubmed":["34025673"],"doi":["10.3389/fimmu.2021.674778"]}}