2010 EFI Abstract

Toward a Community Standard for Immunogenetics Data Reporting and Analysis

Jill A. Hollenbach¹, Henry Erlich², Michael Feolo³, Marcelo Fernandez-Vina⁴, Pierre-Antoine Gourraud⁵, Wolfgang Helmberg⁶, Uma Kanga⁷, Pawinee Kupatawintu⁸, Alex Lancaster⁹, Martin Maiers¹⁰, Hazael Maldonado-Torres¹¹, Steven G.E. Marsh¹¹, Diogo Meyers¹², Derek Middleton¹³, CarlHeinz R. Müller¹⁴, Oytip Nathalang⁸, Myoung Hee Park¹⁵, Richard M. Single¹⁶, Brian Tait¹⁷, Glenys Thomson¹⁸, Ana Maria Valdes¹⁹, Mike Varney¹⁷, Steven J. Mack¹

¹Children's Hospital Oakland Research Institute, Oakland, United States of America
²Roche Molecular Systems, Pleasanton, United States of America
³National Institutes of Health, Bethesda, United States of America
⁴University of Texas, Houston, United States of America
⁵University of California, San Francisco, San Francisco, United States of America
⁶Medizinische Universität Graz, Graz, Austria
⁷All India Institute of Medical Sciences, New Delhi, India
⁸National Blood Centre, Thai Red Cross Society, Bangkok, Thailand
⁹University of Arizona, Tuscon, United States of America
¹⁰National Marrow Donor Program, Minneapolis, United States of America
¹¹Royal Free Hospital, London, United Kingdom (Great Britain)
¹²Universidade de Sao Paulo, Sao Paolo, Brazil
¹³Royal Liverpool University Hospital, Liverpool, United Kingdom (Great Britain)
¹⁴Zentrales Knochenmarkspender-Register fuer die Bundesrepublik Deutschland GmbH, Ulm, Germany
¹⁵Seoul National University Hospital, Seoul, Korea, Republic of
¹⁶University of Vermont, Burlington, United States of America
¹⁷The Australian Red Cross Blood Service, Melbourne, Australia
¹⁸University of California, Berkeley, Berkeley, United States of America
¹⁹King's College London, St Thomas' Hospital, London, United States of America

In genomics research a consensus is emerging regarding the need for community data-reporting and analysis standards in genetic disease association studies. The recent STREGA (Strengthening the Reporting of Genetic Association studies) statement is an important advance in these efforts, defining specific areas in which adoption of community standards can improve the consistent interpretation of genetic studies, particularly for genome-wide association studies. While many data-reporting issues described in STREGA pertain to immunogenomic studies, the high level of polymorphism associated with these data requires specific, and additional, standards and recommendations. The wide-spread use of high-throughput genotyping methods, which generate data at differing levels of resolution, and the ongoing identification of additional allelic diversity require consistent approaches to managing and analyzing immunogenomic data that will permit synthesis across datasets generated at different times and using different methods. The Immunogenomic Data Analysis Working Group is comprised of investigators from five continents whose collective experiences make clear the need for community-wide immunogenomic data reporting and analysis standards. We propose that community data-management standards are needed to promote transparency in the recording and dissemination of HLA and KIR genotype data and associated ambiguities, and for maintaining the long-term utility of genotype data. In addition, analytical standards for the treatment of rare alleles, haplotype estimation, and donor-recipient matching algorithms would greatly benefit the immunogenomics community. A STREGA-like set of standards, specifically tailored to immunogenomic data, will facilitate donor-recipient matching, the use of combined controls, pooled data, cross-population analyses, replication studies and meta-analyses with greater power and efficiency, and increase the utility of these important data resources.