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Genophiler: A starting point for reviewing DNA testing results Michael L. Raymer, Ph.D. Travis Doom, Ph.D.

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Presentation on theme: "Genophiler: A starting point for reviewing DNA testing results Michael L. Raymer, Ph.D. Travis Doom, Ph.D."— Presentation transcript:

1 Genophiler: A starting point for reviewing DNA testing results Michael L. Raymer, Ph.D. Travis Doom, Ph.D.

2 8/22/04Raymer/Doom – WSU, FBS2 What Genophiler does Facilitates examination of the data PDF files of the electropherograms Summary spreadsheet Analysis report Organizes the data for easy expert analysis Detects issues that may warrant further review by an expert

3 8/22/04Raymer/Doom – WSU, FBS3 What you see when you open a CD provided in discovery:

4 8/22/04Raymer/Doom – WSU, FBS4 Genophiler Quicklinks

5 8/22/04Raymer/Doom – WSU, FBS5 Lab Edits What the testing lab provides is not always the same as the default electropherogram:

6 8/22/04Raymer/Doom – WSU, FBS6 150 RFU Zoom Shows smaller peaks more clearly Here, the peaks that were disregarded by the lab may be evidence of an unknown, minor contributor to the sample

7 8/22/04Raymer/Doom – WSU, FBS7 Summary Sheet The * indicates that this peak may be involved in pullup…

8 8/22/04Raymer/Doom – WSU, FBS8 Pullup Clicking here will show us the GenoTyper annotated electropherogram…

9 8/22/04Raymer/Doom – WSU, FBS9 Genotyper Output D3 vWAFGA

10 8/22/04Raymer/Doom – WSU, FBS10 Genophiler Quicklinks

11 8/22/04Raymer/Doom – WSU, FBS11 Analysis Parameters: Size Standards:

12 8/22/04Raymer/Doom – WSU, FBS12 Analysis Screen Shot

13 8/22/04Raymer/Doom – WSU, FBS13 Analysis Report We reviewed the data using our standard screening procedure, which employs GeneScan v3.7.1 and GenoTyper v3.7 (the same software used by the forensic DNA testing laboratory) to examine the test results. Our analysis has identified the following issues that might be important to your interpretation of the DNA evidence in this case. All of these issues warrant further review by an expert. All of the statements listed below about the data in your case can be verified by any competent expert who has access to GeneScan and GenoTyper software and to the data you provided to us. GeneScan and GenoTyper are proprietary software programs licensed by Applied Biosystems International. The reference samples of the victim, "Jane Doe", and "Jane Doe-C", Jane Doe-C displays peak height imbalance at the locus CSF. The difference in the peak heights of the 13 and 11 alleles for the CSF locus (51 and 889, respectively) could be the result of a technical artifact (such as primer binding site mutations), or be evidence of more than one contributor to that sample. Jane Doe is consistent with its source being a mixture of two or more individuals. Two loci, D3 (Allele 14 - 1079 RFUs, Allele 15 - 926 RFUs, Allele 16*a - 102 RFUs) and D21 (Allele 27 - 806 RFUs, Allele 32.2 - 695 RFUs, Allele 34.2 - 56 RFUs) appear to have more than two alleles. The additional peaks in this reference sample were found to be below the threshold of 150 RFUs, indicating that they are possibly caused by stochastic effects. Some additional peaks may be due to an uncommon technical artifact known as +4 stutter. A mixture in a reference sample could indicate that contamination has occurred. A locus by locus description of issues that may warrant further review by an expert, including: Peak height imbalance Presence of a mixture Possible degradation Possible pullup Inconsistent results from multiple runs Problems with control runs and reagent blanks

14 8/22/04Raymer/Doom – WSU, FBS14 Identifying Problems: Raw Data

15 8/22/04Raymer/Doom – WSU, FBS15 Poor Raw Data

16 8/22/04Raymer/Doom – WSU, FBS16 Other Issues: EPT Data Shows current, voltage, laser power, and temperature For good analysis, should be constant (flat)

17 8/22/04Raymer/Doom – WSU, FBS17 Problematic EPT data

18 8/22/04Raymer/Doom – WSU, FBS18 Automation Process Select samples and settings in one screen Analysis can be performed unattended Up to 4 analysis runs can be set up at one time

19 8/22/04Raymer/Doom – WSU, FBS19 Experts interface

20 8/22/04Raymer/Doom – WSU, FBS20 Genophiler does not Make judgments about the validity of the evidence or the analysis labs conclusions Attempt to interpret the sources of DNA in mixed samples Provide a substitute for expert evaluation of problematic evidence

21 Acknowledgements Dr. William Thompson Dr. Simon Ford Dr. Dan Krane Jason Gilder Carrie Rowland Dr. Oscar Garcia

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