DNA Forensics: Genotype Profiling Tool for Personal Computers
Principal Investigator: Ranajit Chakraborty, PhD
Recent mass-disasters, such as 9/11 and the earthquake-generated tsunami that killed approximately 250,000 people in southeast Asia and the eastern coast of Africa, reveal an urgent need for user-friendly software that can compare DNA profiles to a database of missing persons.
A pilot project, initiated under the umbrella of the Computational Medicine Center and led by Ranajit Chakraborty, PhD, of the University of Cincinnati Medical Center, is equipped to conduct such an analysis on a massive scale. Dr. Chakraborty and his colleagues are developing a software tool tentatively called AMPGEN (Attribution in Missing Persons from DNA GENotype profiles) that is designed to have applications in forensics as well as quality control assurances of patient-based genomic databases.
Advances in DNA forensics enable DNA profiling whenever biological samples are available. This provides a highly reliable way of telling, for example, whether a biological sample came from a specific individual or a member of a family from whom DNA is available. While this technology is firmly established, using existing tools to find a match can be a complex and time-consuming process. AMPGEN will enable users to import DNA profiles directly from laboratory data, offer the statistical interpretation of a match in a missing persons database, provide kinship analyses, chart pedigrees, establish confidence bounds for frequency estimates and provide likelihood ratios linked to validated DNA databases.
AMPGEN is designed as a freestanding application for personal computers, enabling its use in courts and other field offices. In addition to being a useful tool for the DNA forensics community, and parentage testing laboratories, AMPGEN will also be applicable for disease gene mapping, clinical trials based on pedigree members, and medical examiners building infrastructures for mass-disaster victim identification.
The concept of AMPGEN grew out of Dr. Chakraborty's vast experience of developing statistical methods for interpretation of DNA forensic evidence, but the development of this integrated software is supported by a Computational Medicine Center grant. Once completed, modules of AMPGEN will be integrated into the other database-related projects at Cincinnati Children's, University of Cincinnati College of Medicine and Barrett Cancer Center for data accuracy checks based upon genomic information from patients (e.g., duplicate records, relationships, errors in stated pedigree relationships, etc.).
