Human Genetic Analysis Resource

Human Genetic Analysis Resource

Case Western Reserve University Wolstein Research Building 2103 Cornell Road Cleveland, OH 44106-7281 darwin.cwru.edu/index.php Grant No. P41 RR003655

Principal Investigator Robert C. Elston, Ph.D. 216-368-5630; Fax: 216-368-4880 Additional Contact Courtney Gray-McGuire 216-368-4314

Research Emphasis

The Human Genetic Analysis Resource (H.G.A.R.) is developing a user-friendly software package, S.A.G.E. (Statistical Analysis for Genetic Epidemiology), that can be used to analyze family data to determine whether the variability of a trait, either quantitative or qualitative, is significantly due to Mendelian segregation at a single genetic locus; whether there is an association between a quantitative or qualitative trait and a known polymorphic genetic marker; and whether there are genetic loci linked to a known genetic marker that underlie variability in a trait.

Current Research

Current research is focused on the theoretical development of statistical methods for the analysis of family data, especially to detect and identify genetic components that underlie disease susceptibility; the incorporation of these methods into appropriate computer programs to make the programs generally available to other human geneticists and genetic epidemiologists in a well-documented and user-friendly form; the evaluation of the validity, power, and robustness of the statistical procedures, especially to differentiate genetic causes from alternative environmental causes for familial aggregation; and the application of methods and programs in collaborative projects to identify single genes that play roles in the etiology of various diseases.

Resource Capabilities

Software

Computer: The Human Genetic Analysis Resource has specifically purchased the following computer equipment for developing genetic analysis software and performing genetic analyses: Microway UP2000 Dual 667MHz Alpha Server with 1gigabytes (GB) of random access memory (RAM) and 225 GB of online disk space; 5 Node Dell SC1425 SGE Linux Cluster with 20 GB of distributed RAM; 12 node Dell PE2650, PE6650 OpenMosix cluster, with 15 GB of distributed RAM and 1.2 tetrabytes (TB) of online disk space; Windows 2003 File Server with 1 GB of RAM; 5.25 TB storage area network to accommodate the storage needs of the resource; EMC Legato Networker server with an attached 10-tape SDLT autoloader library; two Linux light weight directory access protocol servers for authentication purposes; Intel Linux network attached storage server with 1 GB of RAM; Dell PE6450 Server with 3 GB of RAM and 64 GB of online disk space; HP Itanium workstation with 1 GB of RAM; Apple G5 Workstation with 2 GB of RAM and 80 GB of online disk space; Microway Durango Alpha Class workstation with 512 MB of RAM and 8 GB of online disk space; Sun Workstation with 1 GB of RAM and 8 GB of online disk space; Dell SC1425 Linux Server with 4 GB of RAM; Dell PE1850 Linux Server with 2 GB of RAM; Sun E450 server with 3 GB of RAM and 80 GB of online disk space; Sun E3500 with 1 GB RAM and 18 GB of disk space; and 15 Intel workstations that are used in the development of S.A.G.E.

Several printers are available for usage including 5 HP Laserjets, a RICOH Color Laser printer. Media handling capabilities include compact disk rewritable/digital video disc rewritable Rom, digital linear tape, and super digital linear tape. All computers and printers are networked on a 1000Base T Ethernet connection to CWRUnet. These computer facilities are in addition to the departmental computer facilities described in publication 4 (see below). H.G.A.R. is continually developing the computer package S.A.G.E. and collaborations both nationally and internationally.

Publications

1. Kaabi, B., Gelernter, J., Woods, S. W., Goddard, A., Page, G. P., and Elston, R. C., Genome scan for loci predisposing to anxiety disorders using a novel multivariate approach: evidence for a chromosome 4 risk locus. American Journal of Human Genetics 78:543–553, 2006.

2. Song, K. and Elston, R. C., A powerful method of combining measures of association and Hardy-Weinberg disequilibrium for fine-mapping in case-control studies. Statistics in Medicine 25:105–126, 2006.

3. Wang, T. and Elston, R. C., Two-level Haseman-Elston regression for general pedigree data analysis. Genetic Epidemiology 29:12–22, 2005.

4. Elston, R. C. and Gray-McGuire, C., A review of the "Statistical Analysis for Genetic Epidemiology" (S.A.G.E.) software program package. Human Genomics 1:1-4, 2005.