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.