Funded by: PCHRD
Project Leader: Maria Corazon A. de Ungria, PHD
Next generation sequencing (NGS) techniques have existed for over a decade. However in the Philippines, the use of NGS for forensic science remains to be realized. To date, the Philippine databases housed at the DNA Analysis Laboratory, Natural Sciences Research Institute, University of the Philippines, Diliman consist of autosomal STRs, X-STR, and Y-STR data as well as mitochondrial sequences. However, these databases that were generated over a span of 15 years remain limited in the number of samples and number of DNA markers tested. Advances in DNA sequencing chemistries and technologies are currently being applied in large volume sequencing in molecular anthropology, medical genetics, and evolutionary biology. NGS can now be utilized to advance the generation of DNA profiles consisting of autosomal and gonosomal short tandem repeats (STRs) and mtDNA sequences. NGS is unique in that it can provide both fragment length measurements and actual DNA sequences in a single analysis. The use of variations in DNA fragment length as well as in actual DNA sequences significantly enhances the capacity of genetic tests to discriminate between two human persons and evaluate potential relationships. Databases resulting from next generation sequencing will maximize the benefits of NGS in obtaining more genetic information from a very small amount of sample.
The aim of this research study is to generate a frequency database of autosomal (aSTR), gonosomal STR makers, mitochondrial DNA (mtDNA) sequences and single nucleotide polymorphisms (SNPs) of representative Filipino populations utilizing DNA fragment analysis, capillary sequencing and next generation sequencing (NGS). Upon validation of the database for forensic applications, the database will be available to the scientific community and forensic DNA laboratories for statistical evaluation of matching DNA evidence using aSTR and gonosomal STR profiles, mtDNA sequences and SNP frequencies in forensic casework. The overall goal of this project is to generate frequency and sequence databases of autosomal, X- and Y- chromosomal Short Tandem Repeat (STR) markers, mitochondrial DNA sequences, and Single Nucleotide Polymorphism (SNPs) of representative Filipino populations utilizing DNA fragment analysis, capillary sequencing and next generation sequencing (NGS, also known as massively parallel sequencing).