Ongoing Development of a Human Population Genetics Resource with Forensic Application

Yale University, New Haven CT

Investigators

Abstract

The current use of DNA in criminal forensics, in identification of individuals in mass disasters, and in connecting individuals to their biological families (e.g., childhood abductees) is already well established with good scientific justification. Advanced molecular technology, however, is likely to make new types of genetic markers even better at these tasks and provide useful forensic evidence not possible with the techniques currently used in standard forensic applications. Previous to such new implementation, the scientific basis for the new markers and their interpretations must be developed. And because the United States has such a large proportion of its citizens with ancestries from all parts of the world, the science must have a global perspective. The core aspects of this research project involve identifying data in the literature (and public databases) that are potentially relevant to understanding human genetic variation broadly, especially as relevant to forensic use of DNA variation. The most relevant data from these widely dispersed sources will then be assembled and evaluated. The extant large database, ALFRED (ALlele FREquency Database), currently inclusive of 37 million allele frequency entries, will be enriched with the new data, while the web-based interfaces to these data will be modified, in conjunction with the forensic community, to make the data readily available for research and useful in actual forensic practice. The research will provide additional scientific support for existing forensic use of DNA, and will provide the necessary scientific support of use of new scientific methodologies in the likely expansion of forensic application of DNA. The project involves computerization of existing and newly available data, a significant task involving skills in bioinformatics and an understanding of the necessary documentation. The ALFRED database and the web interface were originally designed to allow the integrated documentation of the molecular, population, and publication aspects of each datum; those functions have worked well for several years and will be adequate for assembling the data in the current project. FROG-kb (Forensic Resource/Reference on Genetics knowledge base), which allows several specific forensic views of the data and actual calculation of relevant statistics, will be enhanced through the project. And as the interface currently exists only in a prototype version, a major aspect of the research will focus on improving functionality based on the accumulated data and analyses of those data.