Publications & Technical Reports | |
R189 | ||
A System for Exact and Approximate Genetic Linkage Analysis of SNP Data in Large Pedigrees
Mark Silberstein, Omer Weissbrod, Lars Otten, Anna Tzemach, Andrei Anisenia, Oren Shtark, Dvir Tuberg, Eddie Galfrin, Irena Gannon, Adel Shalata, Zvi U. Borochowitz, Rina Dechter, Elizabeth Thompson, Dan Geiger
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Abstract
Motivation: The use of dense single nucleotide polymorphism (SNP)
data in genetic linkage analysis of large pedigrees is impeded by
significant technical, methodological and computational challenges.
Here we describe Superlink-Online SNP, a new powerful online
system which streamlines the linkage analysis of SNP data. It
features a fully integrated flexible processing workflow comprising
both well-known and novel data analysis tools, including SNP
clustering, erroneous data filtering, exact and approximate LOD
calculations, and maximum-likelihood haplotyping. The system draws
its power from thousands of CPUs, performing data analysis tasks
orders of magnitude faster than a single computer. By providing
an intuitive interface to sophisticated state-of-the-art analysis tools
coupled with high computing capacity, Superlink-Online SNP helps
geneticists unleash the potential of SNP data for detecting disease
genes.
Results: Computations performed by Superlink-Online SNP are automatically parallelized using novel paradigms, and executed on unlimited number of private or public CPUs. One novel service is large-scale approximate Markov Chain-Monte Carlo (MCMC) analysis. The accuracy of the results is reliably estimated by running the same computation on multiple CPUs and evaluating the Gelman- Rubin Score to set aside unreliable results. Another service within the workflow is a novel parallelized exact algorithm for inferring maximum-likelihood haplotyping. The reported system enables genetic analyses that were previously infeasible. We demonstrate the system capabilities via a study of a large complex pedigree affected with metabolic syndrome. Availability: Superlink-Online SNP is freely available for researchers at http://cbl-hap.cs.technion.ac.il/superlink-snp . The system source code can also be downloaded from the system website. [PDF] - [Suppl] |