[HTML][HTML] Interpreting NUMTs in forensic genetics: Seeing the forest for the trees

C Marshall, W Parson - Forensic Science International: Genetics, 2021 - Elsevier
Nuclear mitochondrial DNA (mtDNA) segments (NUMTs) were discovered shortly after
sequencing the first human mitochondrial genome. They have earlier been considered to …

Ethics reporting in forensic science research publications–A review

DOM Bonsu, CB Afoakwah, M Abedi, D Higgins… - Forensic science …, 2022 - Elsevier
An essential element of compliance with ethical standards in scientific research is the
reporting of a verifiable declaration of ethical approval and, when human subjects are …

Distinguishing mitochondrial DNA and NUMT sequences amplified with the precision ID mtDNA whole genome panel

JC Cihlar, C Strobl, R Lagacé, M Muenzler, W Parson… - Mitochondrion, 2020 - Elsevier
Nuclear mitochondrial DNA segments (NUMTs) are generated via transfer of portions of the
mitochondrial genome into the nuclear genome. Given their common origin, there is the …

CmVCall: An automated and adjustable nanopore analysis pipeline for heteroplasmy detection of the control region in human mitochondrial genome

L Jiang, J Liu, S Li, Y Wen, X Zheng, L Qin… - Forensic Science …, 2023 - Elsevier
Genetic associations between human mitochondrial DNA (mtDNA) heteroplasmy and
mitochondrial diseases, aging, and cancer have been elaborated, contributing a lot to the …

Numt identification and removal with RtN!

AE Woerner, JC Cihlar, U Smart, B Budowle - Bioinformatics, 2020 - academic.oup.com
Motivation Assays in mitochondrial genomics rely on accurate read mapping and variant
calling. However, there are known and unknown nuclear paralogs that have fundamentally …

Numt Parser: Automated identification and removal of nuclear mitochondrial pseudogenes (numts) for accurate mitochondrial genome reconstruction in Panthera

A De Flamingh, AG Rivera-Colón, TP Gnoske… - Journal of …, 2023 - academic.oup.com
Nuclear mitochondrial pseudogenes (numts) may hinder the reconstruction of mtDNA
genomes and affect the reliability of mtDNA datasets for phylogenetic and population …

From forensics to clinical research: Expanding the variant calling pipeline for the precision ID mtDNA whole genome panel

F Cortes-Figueiredo, FS Carvalho, AC Fonseca… - International journal of …, 2021 - mdpi.com
Despite a multitude of methods for the sample preparation, sequencing, and data analysis of
mitochondrial DNA (mtDNA), the demand for innovation remains, particularly in comparison …

The time is now for ubiquitous forensic mtMPS analysis

LC Canale, W Parson… - … Reviews: Forensic Science, 2022 - Wiley Online Library
Mitochondrial (mt) DNA sequence analysis is useful for assessing ancestral origin and
migration, identifying human remains, and examining evidentiary material in forensic …

Reducing noise and stutter in short tandem repeat loci with unique molecular identifiers

AE Woerner, S Mandape, JL King, M Muenzler… - Forensic Science …, 2021 - Elsevier
Unique molecular identifiers (UMIs) are a promising approach to contend with errors
generated during PCR and massively parallel sequencing (MPS). With UMI technology …

Forensic use of human mitochondrial DNA: A review

P Cavalcanti, TLS Nogueira, EFDE Carvalho… - Anais da Academia …, 2024 - SciELO Brasil
In forensics, genetic human identification is generally achieved by nuclear STR DNA typing.
However, forensic samples often yield DNA in exiguous quantity and low quality, impairing …