Recent advances in forensic biology and forensic DNA typing: INTERPOL review 2019–2022

JM Butler - Forensic Science International: Synergy, 2023 - Elsevier
This review paper covers the forensic-relevant literature in biological sciences from 2019 to
2022 as a part of the 20th INTERPOL International Forensic Science Managers Symposium …

Mitochondrial DNA in Human Diversity and Health: From the Golden Age to the Omics Era

CL Hernández - Genes, 2023 - mdpi.com
Mitochondrial DNA (mtDNA) is a small fraction of our hereditary material. However, this
molecule has had an overwhelming presence in scientific research for decades until the …

Evidence for multi-copy Mega-NUMTs in the human genome

S Lutz-Bonengel, H Niederstätter, J Naue… - Nucleic Acids …, 2021 - academic.oup.com
The maternal mode of mitochondrial DNA (mtDNA) inheritance is central to human genetics.
Recently, evidence for bi-parental inheritance of mtDNA was claimed for individuals of three …

Developmental validation of a MPS workflow with a PCR-based short amplicon whole mitochondrial genome panel

JC Cihlar, C Amory, R Lagacé, C Roth, W Parson… - Genes, 2020 - mdpi.com
For the adoption of massively parallel sequencing (MPS) systems by forensic laboratories,
validation studies on specific workflows are needed to support the feasibility of …

[HTML][HTML] Development and inter-laboratory evaluation of the VISAGE Enhanced Tool for Appearance and Ancestry inference from DNA

C Xavier, M de la Puente, A Mosquera-Miguel… - Forensic Science …, 2022 - Elsevier
Responding to the growing scientific and practical interest in forensic DNA phenotyping, the
VISible Attributes through GEnomics (VISAGE) Consortium was founded in 2017 with the …

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 …

Human mitochondrial control region and mtgenome: design and forensic validation of NGS multiplexes, sequencing and analytical software

CL Holt, KM Stephens, P Walichiewicz, KD Fleming… - Genes, 2021 - mdpi.com
Forensic mitochondrial DNA (mtDNA) analysis conducted using next-generation sequencing
(NGS), also known as massively parallel sequencing (MPS), as compared to Sanger-type …

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 …

The ancestry of eastern Paraguay: a typical south American profile with a unique pattern of admixture

F Simão, J Ribeiro, C Vullo, L Catelli, V Gomes… - Genes, 2021 - mdpi.com
Immigrants from diverse origins have arrived in Paraguay and produced important
demographic changes in a territory initially inhabited by indigenous Guarani. Few studies …

Internal validation and improvement of mitochondrial genome sequencing using the Precision ID mtDNA Whole Genome Panel

C Faccinetto, D Sabbatini, P Serventi, M Rigato… - International Journal of …, 2021 - Springer
With the recent advances in next-generation sequencing (NGS), mitochondrial whole-
genome sequencing has begun to be applied to the field of the forensic biology as an …