Title
A system for exact and approximate genetic linkage analysis of SNP data in large pedigrees.
Abstract
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 that 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.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 through a study of a large complex pedigree affected with metabolic syndrome.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.omerw@cs.technion.ac.ilSupplementary data are available at Bioinformatics online.
Year
DOI
Venue
2013
10.1093/bioinformatics/bts658
Bioinformatics
Keywords
DocType
Volume
large pedigree,superlink-online snp,supplementary data,novel data analysis tool,erroneous data,snp clustering,snp data,approximate genetic linkage analysis,genetic linkage analysis,data analysis tasks order,maximum-likelihood haplotyping,genetic analysis,biomedical research,haplotypes,genetic linkage,cluster analysis,markov chains,algorithms,bioinformatics,monte carlo method
Journal
29
Issue
ISSN
Citations 
2
1367-4811
1
PageRank 
References 
Authors
0.37
24
14
Name
Order
Citations
PageRank
Mark Silberstein151332.78
Omer Weissbrod211.73
Lars Otten3838.06
Anna Tzemach410.37
Andrei Anisenia510.37
Oren Shtark610.37
Dvir Tuberg710.37
Eddie Galfrin810.37
Irena Gannon910.37
Adel Shalata1010.37
Zvi U Borochowitz1110.37
Rina Dechter125387703.16
Elizabeth Thompson1310.37
Dan Geiger143371570.49