18th International HLA and Immunogenetics Workshop: Report on the SNP-HLA Reference Consortium (SHLARC) component

被引：4

作者：

Silva, Nayane S. B. ^{[1
,2
]}

Bourguiba-Hachemi, Sonia ^{[1
]}

Douillard, Venceslas ^{[1
]}

Koskela, Satu ^{[3
]}

Degenhardt, Frauke ^{[4
]}

Clancy, Jonna ^{[3
]}

Limou, Sophie ^{[1
]}

Meyer, Diogo ^{[5
]}

Masotti, Cibele ^{[6
]}

Knorst, Stefan ^{[6
]}

Naslavsky, Michel Satya ^{[5
]}

Franke, Andre ^{[4
]}

Castelli, Erick C. ^{[2
]}

Gourraud, Pierre-Antoine ^{[1
]}

Vince, Nicolas ^{[1
,7
]}

机构：

[1] Nantes Univ, CHU Nantes, INSERM, Ctr Res Transplantat & Translat Immunol,Ecole Cent, Nantes, France

[2] Sao Paulo State Univ, Unesp, Mol Genet & Bioinformat Lab, Sch Med, Botucatu, Brazil

[3] Finnish Red Cross Blood Serv Biobank, Helsinki, Finland

[4] Christian Albrechts Univ Kiel, Univ Hosp Schleswig Holstein, Inst Clin Mol Biol, Campus Kiel, Kiel, Germany

[5] Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Sao Paulo, Brazil

[6] Hosp Sirio Libanes, Mol Oncol Ctr, Sao Paulo, Brazil

[7] Nantes Univ, CHU Nantes Hotel Dieu, UMR 1064,CR2TI, ITUN, 30 bld Jean Monnet, F-44093 Nantes 01, France

来源：

HLA | 2024年 / 103卷 / 01期

基金：

欧盟地平线“2020”;

关键词：

18th International HLA and Immunogenetics Workshop; HLA; imputation; reference panel; SHLARC; SNP; POPULATION; ASSOCIATION; IMPUTATION; DISEASE;

D O I：

10.1111/tan.15293

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

The SNP-HLA Reference Consortium (SHLARC), a component of the 18th International HLA and Immunogenetics Workshop, is aimed at collecting diverse and extensive human leukocyte antigen (HLA) data to create custom reference panels and enhance HLA imputation techniques. Genome-wide association studies (GWAS) have significantly contributed to identifying genetic associations with various diseases. The HLA genomic region has emerged as the top locus in GWAS, particularly in immune-related disorders. However, the limited information provided by single nucleotide polymorphisms (SNPs), the hallmark of GWAS, poses challenges, especially in the HLA region, where strong linkage disequilibrium (LD) spans several megabases. HLA imputation techniques have been developed using statistical inference in response to these challenges. These techniques enable the prediction of HLA alleles from genotyped GWAS SNPs. Here we present the SHLARC activities, a collaborative effort to create extensive, and multi-ethnic reference panels to enhance HLA imputation accuracy.

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