Introduction to LRmix Studio Oskar Hansson Statistical methods in forensic genetics 6-7 June 2016, Bologna EUROFORGEN-NoE is funded by the European Commission within the 7th Framework Programme What is LRmix Studio? • Expert system dedicated to the interpretation of (complex) forensic DNA mixtures • Programmed after the likelihood ratio model: What is LRmix Studio? • Accommodates for drop-out and drop-in • Estimates the drop-out rate from the available data and use this to generate LRs • Free of charge and open-source (Java) • Download: http://lrmixstudio.org/download/ – Note: zip-file must first be unpacked into a folder LRmix Studio – Features • Computes likelihood ratios for DNA profiles characterised with autosomal STR kits • Compares any number of replicates to any number of reference profiles (tested with up to 3 reference profiles and 5 replicates) • Tested for propositions with up to 4 unknowns and a total of 5 contributors LRmix Studio – Limitations • The hypothesized contributors under Hp and Hd are assumed to be unrelated to each other • An unknown can be related to the suspect or victim under Hd • Uncommon and/or untested scenarios may lead to unreliable results • Cannot handle missing data in reference profiles • Does not deconvolute mixtures – EuroForMix can be used for this http://euroformix.com/ LRmix Studio graphical user interface Getting help Links to a local copy of the manual Opens up the ‘About’ tab LRmix Studio user manual 1. What is LRmix Studio? 2. Features 3. Tutorial 3.1 Import sample profiles 3.2 Import or add reference profiles 3.3 Profile summary 3.4 Analysis 3.5 Sensitivity analysis 3.6 Non-contributor tests 3.7 Automatic report generation 4. How to report bugs 5. Join the LRmix Studio user community References About LRmix Studio Software version Contact: [email protected] License agreement Import sample profiles Tabs are inactivated to enforce the workflow Load a previously analysed case Manually add profiles Clear data and start fresh Load the evidence profile(s) The sample file LRmix Studio accept both: SampleName|Marker|Allele1|Allele2 and: Sample Name|Marker|Allele 1|Allele 2 Important to use identical marker names in all files (sample/ref/db) Not case-sensitive: Pentad=PentaD=PenTaD=PENTAD Is sensitive to spaces: Penta D≠PentaD Samples and/or replicates are stacked Notepad++ - Advanced non-destructive text editor LibreOffice Calc (alternatively: OpenOffice Calc) - Free open-source MS Excel clone The sample file LRmix Studio also accept this alternative GeneMapper sample file format Sample File frag_013_G01.fsa frag_014_G02.fsa frag_013_G03.fsa Sample Name rep.1 rep.2 rep.3 D10S1248 12, 13, 14, , , , 12, 13, , , , , 12, 13, , , , , Height 220, 203, 66, , , , , 339, 357, , , , , , 353, 175, , , , , , vWA 16, 19, , , , , 16, 19, , , , , 16, 19, , , , , Height 223, 387, , , , , , 139, 352, , , , , , 247, 327, , , , , , D16S539 8, 9, 10, 11, 14, , 8, 11, 14, , , , 8, 11, , , , , Height 242, 73, 55, 342, 52, , , 169, 175, 64, , , , , 218, 193, , , , , , Import sample profiles Next tab activated A List of all loaded samples/replicates The folder from which the file was loaded List of markers Profiles for each sample/replicate Import reference profiles The list of loci is hard-coded, it’s not derived from the allele frequency table Load reference profile(s) Homozygotes Add a profile manually The reference can be saved as a csv file Possible spurious alleles or additional contributors Detects allele drop-out Detects e.g. parent child relations Profile Summary Customisable highlighting The filters can be printed Determine the number of contributors Analysis Dropout probability per contributor Number of unknown contributors Relatedness Alleles not in freq file is assign this Allele frequency file Drop-in parameter Threads (performance) Theta correction (Fst or θ) LR per locus Final likelihood ratio Contributors and non-contributors LRmix Studio manual – “Only profiles relevant to the LR analysis should be uploaded. If some of the reference profiles are uploaded but later not used in the analysis tab, they will be considered as non-contributors. Noncontributor profiles can influence the likelihood ratio calculations if the Fst (θ) correction is not nil.” Sensitivity Analysis Vary dropout for contributors Drop-out range Drop-in parameter Theta correction (Fst or θ) Delete selected curve Drop-out Estimation Vary dropout for contributors Number of iterations Drop-out range Drop-in parameter Estimated dropout range is shaded in the plot Non-contributor Test Number of random persons to test Difference between the person of interest and the ‘best’ random person Check the person that will be replaced by a random person NB! Drop-out and drop-in values must be > 0 NB! Cannot be used if relatedness is used “Performance tests may improve understanding for those unfamiliar with LRs, but they have no direct bearing on the strength of evidence in a specific case.” - Steele and Balding Reports Interpretation and reporting Other References Replicate analyses
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