Genetic Analysis Workshop 18: Methods and strategies for analyzing human sequence and phenotype data in members of extended pedigrees

Heike Bickeböller, Julia N. Bailey, Joseph Beyene, Rita M. Cantor, Heather J. Cordell, Robert C. Culverhouse, Corinne D. Engelman, David W. Fardo, Saurabh Ghosh, Inke R. König, Justo Lorenzo Bermejo, Phillip E. Melton, Stephanie A. Santorico, Glen A. Satten, Lei Sun, Nathan L. Tintle, Andreas Ziegler, Jean W. MacCluer, Laura Almasy

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


Genetic Analysis Workshop 18 provided a platform for developing and evaluating statistical methods to analyze whole-genome sequence data from a pedigree-based sample. In this article we present an overview of the data sets and the contributions that analyzed these data. The family data, donated by the Type 2 Diabetes Genetic Exploration by Next-Generation Sequencing in Ethnic Samples Consortium, included sequence-level genotypes based on sequencing and imputation, genome-wide association genotypes from prior genotyping arrays, and phenotypes from longitudinal assessments. The contributions from individual research groups were extensively discussed before, during, and after the workshop in theme-based discussion groups before being submitted for publication.

Original languageEnglish
Article numberS1
JournalBMC Proceedings
StatePublished - Jun 17 2014

Bibliographical note

Funding Information:
AZ received intramural funding from the University of Lübeck, Germany. All other authors declare that they have no competing interests.

Funding Information:
Numerous individuals contributed to GAW18 by helping select workshop topics, providing data sets, conducting simulations, distributing data to the participants, leading discussion groups, overseeing the writing of group summaries, reviewing manuscripts, and preparing everything that needs to be done for the event management of the workshop and for the publishing process afterward. We are grateful to the T2D-GENES Consortium for allowing GAW18 participants to use the whole-genome sequence and blood pressure data set around which GAW18 was based. The T2D-GENES Consortium is supported by NIH grants U01 DK085524, U01 DK085584, U01 DK085501, U01 DK085526, and U01 DK085545. The other genetic and phenotypic data for GAW18 were provided by the San Antonio Family Heart Study and the San Antonio Family Diabetes/Gallbladder Study, which are supported by NIH grants P01 HL045222, R01 DK047482, and R01 DK053889. The Genetic Analysis Workshops are supported by NIH grant R01 GM031575. The GAW18 discussion groups were led by Julia Bailey, Justo Lorenzo Bermejo, Joseph Beyene, Rita M. Cantor, Heather Cordell, Corinne D. Engelman, David Fardo, Saurabh Ghosh, Jack W. Kent Jr., Inke R. König, Phillip Melton, Stephanie Santorico, Glen A. Satten, Lei Sun, Nathan Tintle, Ellen M. Wijsman, and Andreas Ziegler. We are grateful to them for their work before, during, and after GAW18 in initiating, organizing, and overseeing pre-workshop communication, group discussions, group presentations, and summary paper writing. Eighty-one individuals assisted in peer review of the papers in this volume: Andrew S. Allen, Christopher I. Amos, Hugues Aschard, Marie-Claude Babron, Joan E. Bailey-Wilson, M. Michael Barmada, Jenny Barrett, Michael Boehnke, Laurent Briollais, Sharon Browning, Darren Brunner, Shelley Bull, Jenny Chang-Claude, Daniel I. Chasman, Charlie Chen, Gary Chen, Karen Conneally, L. Adrienne Cupples, Mariza de Andrade, Vince Diego, Josée Dupuis, Robert C. Elston, Michael P. Epstein, France Gagnon, Katrina A. Goddard, David Goldgar, Lynn Goldin, Alisa M. Goldstein, Derek Gordon, Harald H. Göring, Celia T. Greenwood, Jemila Hamid, Elizabeth R. Hauser, Anthony L. Hinrichs, Jeanine Houwing-Duistermaat, Yijan Hu, Rayjean Hung, Joanne Knight, Carl D. Langefeld, Jerry Lawless, Xihong Lin, Jinghua Liu, Douglas Londono, Sharon Lutz, James D. Malley, Lisa J. Martin, Maria Martinez, Braxton D. Mitchell, Andrew Morris, Bertram Müller-Myhsok, Benjamin M. Neale, Nora L. Nock, Kari E. North, Michael Nothnagel, Janne Pitkäniemi, Elizabeth Pugh, Steve Rich, Nancy L. Saccone, Daniel J. Schaid, André Scherag, Claire Simpson, Janet Sinsheimer, Anne Spence, Lisa Strug, Yan Sun, Rinku Sutradhar, Silke Szymczak, Duncan Campbell Thomas, Elizabeth A. Thompson, Timothy A. Thornton, Roula Tsonaka, Michael E. Weale, John C. Whittaker, Marsha Wilcox, Alexander F. Wilson, Ian J. Wilson, Rongling Wu, Yan Yan Wu, Tracy Xu, Wei Xu, and Yildiz Yilmaz. We are grateful to them for their constructive comments, criticisms, and feedback. Beginning with GAW7 in 1991, Vanessa Olmo has been responsible for major aspects of workshop organization. We are grateful to her for the many things she does that keep the Genetic Analysis Workshops running smoothly. This includes interacting with participants, organizers, editors, and publishers; coordinating data requests and data distribution; facilitating selection of workshop sites and making local arrangements; maintaining the GAW website and mailing list; and preparing many aspects of the GAW proceedings. Selina Flores, Richard Polich, Rene Sandoval, Rudy Sandoval, and Gerry Vest assisted with distribution of data, communication with participants, and preparation of the pre-workshop volume. Ravindranath Duggirala, Sharon Fowler, Thomas Dyer, John Blangero, Juan Peralta, Marcio Almeida, and Jack Kent worked on data simulation and preparation. Sophie Colunga assisted with pre-workshop organization and on-site meeting management. Maria Messenger and Malinda Mann prepared the articles for these proceedings. The GAW Advisory Committee assists with planning for the workshops, including selection of workshop sites and topics. At the time of GAW18, the committee members were Laura Almasy (chair), Shelly Bull, Adrienne Cupples, Jim Gauderman, Saurabh Ghosh, Elizabeth Hauser, Jeanine Houwing-Duistermaat, Jean MacCluer, Andrew Patterson, Glen Satten, and Ellen Wijsman. Since 1982, the Genetic Analysis Workshops have been funded by the National Institute of General Medical Sciences (NIGMS) through grant R01 GM31575 to Jean MacCluer and Laura Almasy. This grant also provides scholarship funds to assist graduate students and postdoctoral trainees attending GAW18. We would like to recognize Donna Krasnewich for her ongoing support and for her efforts as program director for the GAW grant at the time of GAW18. These proceedings, as well as the continued work of statistical genetic methods development through the collaborative format of the Genetic Analysis Workshops, would not be possible without her support and that of NIGMS. We are particularly grateful to Jean MacCluer. Without her there would be no GAW. As always, we wish to express our gratitude to the GAW participants, whose ongoing, enthusiastic support and vigorous scientific discussions are the very foundation of the Workshop. This article has been published as part of BMC Proceedings Volume 8 Supplement 1, 2014: Genetic Analysis Workshop 18. The full contents of the supplement are available online at supplements/8/S1. Publication charges for this supplement were funded by the Texas Biomedical Research Institute.

Publisher Copyright:
© 2014 Bickeböller et al.; licensee BioMed Central Ltd.

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology (all)


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