Evaluating Massive Parallel Sequencing for Missing Persons Identification.

As submitted by the proposer:

The number of missing persons and unidentified human remains (decedents’ who have not been identified) has been described as a “mass disaster over time” . As of January 2016 there were 11,824 missing person cases and 10,622 unidentified remains cases nationwide. New York ranks as the second highest state in the nation of reported unidentified human remains and accounts for nearly 25% of unidentified cases. The DNA Missing Persons Group at the NYC OCME processes hundreds of missing persons cases per year. Often only skeletal remains or body parts (e.g. limbs) are available and consequently offer limited physical characteristics to make a match in missing persons databases. Routinely, DNA is first used in an attempt to amplify genomic markers (STRs) to generate an identity and gender profile to compare to DNA databases. If database comparisons are unsuccessful, or if the genomic DNA too degraded to yield a profile, then mitochondrial DNA is analyzed by sequencing the regulatory hyper-variable regions HV1/HV2. While these mitochondrial markers can lead to a match, they are not nearly as specific identifiers as genomic DNA markers. However, missing persons databases more commonly have ancestry, phenotypic and gender information than DNA profiles.

Consequently, the ability to utilize DNA to predict the ancestry and visible phenotypic features (eye, hair and skin color) of unidentified human remains has the potential to significantly increase missing persons identifications. Research has identified genomic SNPs that can accurately identify pigment-related phenotypes and ancestry. Recent studies have shown that SNPs in the mitochondrial genome may also contribute to ancestry identification. Advances in MPS in combination with the discovery of more than one hundred ancestry/phenotypic SNPs now make it possible to query missing persons databases with phenotypic/ancestral information to winnow down impractically long lists to more narrow groups from which exemplars may be taken from family members. Evaluating this large a number of phenotypic/ancestry markers could not be done practicably with current DNA technology.

The specific aims of this application are to i) evaluate the sensitivity and repeatability of MPS technology using numerous phenotypic, ancestry and identify markers, ii) determine the accuracy of these markers on a diverse population of nearly 300 individuals, iii) assess MPS technology ability to work with degraded samples typical of missing persons cases and iv) to automate the complex DNA library preparation method in order to improve consistent results.

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

ca/ncf