©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 20 (1): gmr18757
Resolving a human identification case for the Rio
de Janeiro Police with massively parallel
sequencing of mtDNA using a proposed pipeline
C. Bottino
1,2
, R. Silva
3
and R.S. Moura-Neto
4
1
Instituto de Pesquisa e Perícias em Genética Forense, Brasil
2
Instituto Nacional de Metrologia, Qualidade e Tecnologia, Brasil
3
Instituto de Biofísica Carlos Chagas Filho, Universidade Federal do Rio de
Janeiro, Brasil
4
Instituto de Biologia, Universidade Federal do Rio de Janeiro, Brasil
Corresponding author: R.S. Moura-Neto
E-mail: rodrigomouraneto@ufrj.br
Genet. Mol. Res. 20 (1): gmr18757
Received October 25, 2020
Accepted March 10, 2021
Published March 31, 2021
DOI http://dx.doi.org/10.4238/gmr18757
ABSTRACT. The forensic community is concerned about the
quality control of mitotypes reported, as probability estimates may be
biased to the disadvantage of a suspect when there is incomplete data.
This is particularly important when using new technology such as
Massively Parallel Sequencing (MPS), which performs simultaneous
analysis of millions of DNA fragments, generating vast amounts of
data from small amounts of sample, providing more extensive genetic
information. The use of MPS for complex forensic evidence analysis
could save time and resources, and provide reliable data for
extremely degraded DNA samples. However, data analysis methods
can be challenging to implement in a forensic labs routine. Here, we
propose a reliable and straightforward pipeline for mtDNA data
analysis in forensic samples using MPS, and we used this pipeline to
solve a human identification case by Rio de Janeiro Police who had
recovered a severely putrefied body that could not be identified by
conventional autosomal STR analysis. Mitochondrial DNA (mtDNA)
from samples were sequenced on Ion Torrent PGM. Raw data from
the sequencing was analyzed in two main pipeline protocols: quality
control and forensic analysis. The first includes the analyses of raw