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- W2189478835 abstract "Interest in the assignment and frequency analysis of haplotypes in samples of unrelated individuals has increased immeasurably as ar esult of the emphasis placed on haplotype analyses by ,f or example ,t he International HapMap Project and related initiatives. Although ther ea re many available computer programs for haplotype analysis applicable to samples of unrelated individuals, many of these programs have limitations and/or very specific uses. In this paper ,t he ke yf eatures of available haplotype analysis softwar ef or use with unrelated individuals, as wel la sp ooled DNA samples from unrelated individuals, are summarised. Programs for haplotype analysis wer ei dentified through keyword searches on PUBMED and various internet search engines, ar eview of citations from retrieved papers and personal communications, up to June 2004. Priority was given to functioning computer programs, rather than theoretical models and methods. The available software was considered in light of an umber of factors: the algorithm(s) used, algorithm accuracy ,a ssumptions, the accommodation of genotyping error ,i mplementation of hypothesis testing, handling of missing data, software characteristics and web-based implementations. Review papers comparing specific methods and programs are also summarised. Forty-six haplotyping programs were identified and reviewed. The programs were divided into two groups: those designed for individual genotype data (a total of 43 programs) and those designed for use with pooled DNA samples (a total of thre ep rograms). The accuracy of programs using various criteria are assessed and the programs ar ec ategorised and discussed in light of: algorithm and method, accuracy ,a ssumptions, genotyping error ,h ypothesis testing, missing data, software characteristics and web implementation. Man ya vailable programs have limitations (eg some cannot accommodate missing data) and/or ar ed esigned with specific tasks in mind (eg estimating haplotype frequencies rather than assigning most likely haplotypes to individuals). It is concluded that the selection of an appropriate haplotyping program for analysis purposes should be guided by what is known about the accuracy of estimation, as wel la sb yt he limitations and assumptions built into ap rogram." @default.
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- W2189478835 date "2005-01-01" @default.
- W2189478835 modified "2023-09-27" @default.
- W2189478835 title "Ac omprehensiv el iteratur er evie wo f haplotyping softwar ea nd methods for use with unrelated individuals" @default.
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