Vania Alves E Silva Pereira

Vania Alves E Silva Pereira

Associate Professor

I have been working in the Population and Forensic Genetics field since 2006. I hold a BSc. degree in Biology, a MSc. degree in Forensic Genetics, and a PhD degree in Biology, with emphasis in Population and Forensic Genetics. I was a Postdoctoral Researcher at Retsgenetisk Afdeling – Retsmedicinsk Institut from 2013 to mid-2015. I have been an Assistant Professor at the same department from 2015 to 2019. I am currently an Associate Professor.

I am involved in several projects running at the department, and besides research, I also have experience in teaching and supervising PhD students, MSc students, and trainees.

 

Fields of interest

The main focus of my research is to understand the factors that shape the genetic diversity patterns in human populations. I am also very interested in applying my knowledge of population genetics and forensic genetics to real casework situations.

I have studied various genetic markers (STRs, SNPs, Indels) on the X and Y chromosomes, autosomes, and mtDNA. Initially, these studies were done with traditional capillary electrophoresis methods, but since 2013, I have been working with different massively parallel sequencing (MPS) technologies.

Current research

My research is currently focused on the following main topics:

 

Recovery of genetic information from low DNA template samples

Forensic casework often contains biological evidence that can be a source of DNA, but the success of obtaining a profile is highly dependent on the amount and quality of the DNA retrieved. Touch DNA samples with minute amounts of DNA are especially difficult to identify and collect. One of my projects focuses on how to better identify and collect DNA from touched items and tries to identify other DNA sources that can alternatively be used if no nuclear DNA is retrieved, such as mtDNA.

 

Analysis of complete mtDNA genomes

The generation of an mtDNA profile from standard reference samples is fairly simple with the currently available sequencing technologies. However, forensic casework samples still pose challenges in the interpretation and reporting of forensic mtDNA evidence.

I am co-coordinator of a global initiative that brings together forensic laboratories to understand and model the frequency of heteroplasmy in mtDNA. Results from this project will be used to establish and update the guidelines and recommendations for the use of mtDNA-based evidence in casework and contribute to a better understanding of the calculation of the statistical weight of the mtDNA evidence in court, both in Denmark and abroad.

 

Recovery of information in the absence of a DNA match

In many forensic cases, the challenge is not necessarily related to the amount of DNA available to study, but rather to the absence of a match between a profile obtained from the evidence and that of a possible suspect, or those profiles included in a crime DNA database.

In this context, additional intelligence information, such as age estimation or externally visible phenotypic traits can provide further investigative leads. Information about an individual’s age can also work as supporting data in identification of remains from victims of mass disasters which usually involve degraded or damaged samples, and in immigration cases, where individuals have different protection status under the law depending on their age. One of my projects aims to contribute to the implementation of forensic age estimation in casework using DNA methylation.

 

Identification of novel forensic markers

From the traditional capillary electrophoresis typing, the advent of MPS paved the way for the study of other novel and emerging genetic markers, such as microhaplotypes. One of my projects aims to design novel microhaplotype panels targeted to specific forensic applications and to develop associated bioinformatic tools, namely for mixture deconvolution.

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