PMID- 32681667 OWN - NLM STAT- MEDLINE DCOM- 20210531 LR - 20221207 IS - 1098-2272 (Electronic) IS - 0741-0395 (Print) IS - 0741-0395 (Linking) VI - 44 IP - 7 DP - 2020 Oct TI - SNP-HLA Reference Consortium (SHLARC): HLA and SNP data sharing for promoting MHC-centric analyses in genomics. PG - 733-740 LID - 10.1002/gepi.22334 [doi] AB - Genome-wide associations studies have repeatedly identified the major histocompatibility complex genomic region (6p21.3) as key in immune pathologies. Researchers have also aimed to extend the biological interpretation of associations by focusing directly on human leukocyte antigen (HLA) polymorphisms and their combination as haplotypes. To circumvent the effort and high costs of HLA typing, statistical solutions have been developed to infer HLA alleles from single-nucleotide polymorphism (SNP) genotyping data. Though HLA imputation methods have been developed, no unified effort has yet been undertaken to share large and diverse imputation models, or to improve methods. By training the HIBAG software on SNP + HLA data generated by the Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA) to create reference panels, we highlighted the importance of (a) the number of individuals in reference panels, with a twofold increase in accuracy (from 10 to 100 individuals) and (b) the number of SNPs, with a 1.5-fold increase in accuracy (from 500 to 24,504 SNPs). Results showed improved accuracy with CAAPA compared to the African American models available in HIBAG, highlighting the need for precise population-matching. The SNP-HLA Reference Consortium is an international endeavor to gather data, enhance HLA imputation and broaden access to highly accurate imputation models for the immunogenomics community. CI - (c) 2020 The Authors. Genetic Epidemiology published by Wiley Periodicals LLC. FAU - Vince, Nicolas AU - Vince N AUID- ORCID: 0000-0002-3767-6210 AD - Centre de Recherche en Transplantation et Immunologie, ITUN, UMR 1064, Universite de Nantes, CHU Nantes, Inserm, Nantes, France. FAU - Douillard, Venceslas AU - Douillard V AUID- ORCID: 0000-0002-6762-4083 AD - Centre de Recherche en Transplantation et Immunologie, ITUN, UMR 1064, Universite de Nantes, CHU Nantes, Inserm, Nantes, France. FAU - Geffard, Estelle AU - Geffard E AD - Centre de Recherche en Transplantation et Immunologie, ITUN, UMR 1064, Universite de Nantes, CHU Nantes, Inserm, Nantes, France. FAU - Meyer, Diogo AU - Meyer D AD - University of Sao Paulo, Sao Paulo, Brazil. FAU - Castelli, Erick C AU - Castelli EC AD - UNESP-Universidade Estadual Paulista, Botucatu, Sao Paulo, Brazil. FAU - Mack, Steven J AU - Mack SJ AD - Department of Pediatrics, University of California, San Francisco, UCSF Benioff Children's Hospital Oakland, Oakland, California. FAU - Limou, Sophie AU - Limou S AD - Centre de Recherche en Transplantation et Immunologie, ITUN, UMR 1064, Universite de Nantes, CHU Nantes, Inserm, Nantes, France. AD - Ecole Centrale de Nantes, Nantes, France. FAU - Gourraud, Pierre-Antoine AU - Gourraud PA AD - Centre de Recherche en Transplantation et Immunologie, ITUN, UMR 1064, Universite de Nantes, CHU Nantes, Inserm, Nantes, France. LA - eng PT - Journal Article PT - Research Support, N.I.H., Extramural PT - Research Support, Non-U.S. Gov't DEP - 20200718 PL - United States TA - Genet Epidemiol JT - Genetic epidemiology JID - 8411723 RN - 0 (HLA Antigens) SB - IM MH - Black or African American/*genetics MH - Alleles MH - Asthma/genetics MH - Gene Frequency/genetics MH - Genome, Human/*genetics MH - Genomics MH - Genotype MH - HLA Antigens/*genetics MH - Haplotypes/genetics MH - Humans MH - Information Dissemination MH - Models, Genetic MH - Polymorphism, Single Nucleotide/*genetics MH - White People/genetics PMC - PMC7540691 OTO - NOTNLM OT - HLA OT - SNP OT - consortium OT - imputation COIS- The authors declare that there are no conflict of interests. EDAT- 2020/07/19 06:00 MHDA- 2021/06/01 06:00 PMCR- 2020/10/07 CRDT- 2020/07/19 06:00 PHST- 2020/01/06 00:00 [received] PHST- 2020/06/19 00:00 [revised] PHST- 2020/07/03 00:00 [accepted] PHST- 2020/07/19 06:00 [pubmed] PHST- 2021/06/01 06:00 [medline] PHST- 2020/07/19 06:00 [entrez] PHST- 2020/10/07 00:00 [pmc-release] AID - GEPI22334 [pii] AID - 10.1002/gepi.22334 [doi] PST - ppublish SO - Genet Epidemiol. 2020 Oct;44(7):733-740. doi: 10.1002/gepi.22334. Epub 2020 Jul 18.