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Genophiler® and GenoStat®: Tools for objective evaluation of DNA testing results. (Dr. Jason Gilder, Forensic Bioinformatics)

Genophiler®

Genophiler® is software tool that automates the operation of GeneScan® and Genotyper® and organizes and stores the testing results. Genophiler® is made up of a suite of software programs to automate the operation of GeneScan® and Genotyper®; to collect, process, and organize the data; and to produce several output files in the form of HTML documents (for interactivity and cross-compatibility). These include the Quicklinks Navigator (providing access to all GeneScan® and Genotyper® analysis output), a summary table (providing a color-coded list of all samples and detected peaks), and a report (detailing potential issues found with each tested sample).

GenoStat®

GenoStat is a java-based application that generates DNA profile match statistics (RMP, CPI and things like sibling match probabilities) as well doing some mixture deconvolution (separate mixtures into their contributor components).

We're hoping that most of what GenoStat does is self-explanatory (at least to people confronted with DNA testing results). You should be able to just double-click on it to get it to run (if you have Java installed on your computer). With this version you'll need to type in RFU values for any alleles at any loci that you want to consider in your analysis. If you type in values for three or four alleles at any locus it will presume that you are dealing with a two-person mixture and will attempt to deconvolve it for you. If you type in more than four alleles at a locus it will warn you that it can only deconvolve two-person mixtures but will still generate CPI statistics for you. You'll see you can change the value for theta and can pick from allele frequencies from one of three different databases. You can see what effect deleting any locus or loci from consideration just by clicking on some check boxes and quickly get an answer for a variety of different kinds of match probabilities (unrelated through sibling to third cousin) with a drop down menu. We've tested it on Macs, PCs, and Linux boxes on our end.

We're excited about it and very much hope that you find it useful and get excited about it too. We'd very much like to hear any suggestions you might have for improvements. Please treat this beta release as roughly as you can and tell us if you find it making errors of any kind.

Materials

Presentation

Sample Genophiler® case

Run GenoStat