1 – DNA methylation quantification analysis in different human soft tussues for forensic purposes 2 – Whole exome sequencing data analysis for geneic alteration in heart malfunctioning

Abstract: REPORT 1. DNA methylation plays quite an important role in the mammalian genomes absolute functions. With the advancement in the epigenetics, it has been shown that the DNA methylation is a variable factor with respect to the age, differentially present in different human tissue types and may also be influenced by different life styles. We designed a project of forensic genetics, to identify the human soft tissues, based on the quantification of DNA methylation at specific genomic regions of different human tissues. We used bisulphite (pyro) sequencing to quantify the DNA methylation and confirmed that the regions are different with respect to their DNA methylation content. This approach may serve in the future, as a powerful forensic platform not only as an identification tool for tissues of unknown nature but also to predict age, gender of the donor and time of the crime scene. REPORT 2. Sudden cardiac death (SCD) is an unexpected causality resulted by cardiac malfunctioning over a short stretch of time (<1 hour). SCD accounts for nearly 325,000 deaths per year in the United States only; more deaths are attributable to SCD than any other kind of natural death. The development and function of the human heart is under strict control of gene networks. Any change in the functional sequence of these genes could potentially be fatal. We have observed recently two of such cases where abnormal human heart function leads to sudden cardiac arrest. We planned to conduct a study, based on the exome sequencing and analysis of DNA samples taken from the cases. The aim of this project was to detect the sequence variations (SNP and Indels) that are only present in the cases but not in the population; and also interpret the possible role of these variants in these deaths. We detected around 21 new SNPs and 17 Indels that might possibly be the cause of the SCD. We want to continue analysing this data to detect more previously unknown/unrelated cardiac loci for their potential role in these causalities and help in formulating genetic tests for SCD.