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                            Funding & Awards
 Powerful Forensic Markers Optimized for Massively Parallel Sequencing
Award Information
Awardee
              Yale University
Award #
              2015-DN-BX-K023
Funding Category
              Competitive
Location
                    New Haven, CT
Congressional District
              3
Status
              Closed
Funding First Awarded
              2015
Total funding (to date)
              $1,146,143
Original Solicitation
              NIJ FY 15 Research and Development in Forensic Science for Criminal Justice Purposes
Description of original award (Fiscal Year 2015, $1,146,143)
As submitted by the proposer: 

SNPs (as a panel of individual SNPs or assembled into Microhaplotypes) are increasingly important in forensics because they can provide more information than the conventional STR polymorphisms (e.g. CODIS markers). With the revolution in forensic methodology from capillary electrophoresis (CE) to massively parallel sequencing (MPS), SNPs and STRPs can be multiplexed using a single technology. In 2007 we defined four types of SNP panels for use in forensics: IISNPs for individual identification, AISNPs for ancestry inference, PISNPs for phenotype (visible trait) inference, and LISNPs for lineage/family/clan inference. The different panels require SNPs with different characteristics and all four panels require reference data (population-specific allele frequencies) on a global representation of populations. Our research has produced a finished IISNP panel composed of 45 up to 86 SNPs with random match probabilities, irrespective of population, of <10-15 to <10-30, respectively. We have also developed an AISNP panel that provides good resolution of up to 10 geographical regions. Our IISNP and AISNP panels are significant components of existing commercial panels for MPS in forensics. We now propose to develop a globally comprehensive set of panels of AISNPs with a first tier defining at least ten, ideally more, biogeographic regions and to develop different second tier panels for finer distinction within a region defined by the first tier AISNPs. These panels will provide a powerful tool for fine geographic resolution of ancestry that will be optimized for use with MPS.

Identification of the family to which a DNA profile belongs is essential in mass disasters and missing person situations. We have been developing an LISNP panel of markers that is much more powerful for identifying relatives than is possible with the CODIS STRPs. We have demonstrated the feasibility of microhaplotypes (<~ 200pb in length) to detect DNA mixtures in case samples; the same criteria apply to familial studies. We are now proposing to develop a mature LISNP panel and the sequencing technology useful in minimizing the ambiguity of phase. Available resources (e.g., 1000 Genomes and other whole genome data on populations) will provide the candidates that we can then evaluate in the context of our broad population coverage to assure a powerful panel of LISNP loci.

Note:  This project contains a research and/or development component, as defined in applicable law.

ca/ncf



  
Grant-Funded Publications
        
                      Genetic diversity of the North African population revealed by the typing of SNPs in the DRD2/ANKK1 genomic region
                  FrogAncestryCalc: A standalone batch likelihood computation tool for ancestry inference panels catalogued in FROG-kb
                  The distinctive geographic patterns of common pigmentation variants at the OCA2 gene
                  Genetic history of the population of Crete
                  Powerful Forensic Markers Optimized for Massively Parallel Sequencing
                  Genetic relationships of European, Mediterranean, and SW Asian populations using a panel of 55 AISNPs
                  Microhaplotypes in forensic genetics
                  Mixture Deconvolution by Massively Parallel Sequencing of Microhaplotypes
                  Usefulness of COMT gene polymorphisms in North African populations
                  Improving Ancestry Distinctions Among Southwest Asian Populations
                  Redesigned Forensic Research/Reference on Genetics-knowledge base, FROG-kb
                  Ancestry Inference of 96 Population Samples Using Microhaplotypes
                  Selecting Microhaplotypes Optimized for Different Purposes
                  Confounding Effects of Microbiome on the Susceptibility of TNFSF15 to Crohn's Disease in the Ryukyu Islands
                  Genetics of the Peloponnesean Populations and the Theory of Extinction of the Medieval Peloponnesean Greeks

  
Date Created: September 16, 2015
    
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