From Forensics to Clinical Research: Expanding the Variant Calling Pipeline for the Precision ID mtDNA Whole Genome Panel

• Published in: International journal of molecular sciences Vol. 22; no. 21; p. 12031
• Main Authors: Cortes-Figueiredo, Filipe, Carvalho, Filipa S, Fonseca, Ana Catarina, Paul, Friedemann, Ferro, José M, Schönherr, Sebastian, Weissensteiner, Hansi, Morais, Vanessa A
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 06.11.2021; MDPI
• Subjects: Algorithms; Business metrics; Data analysis; Deoxyribonucleic acid; DNA; DNA sequencing; Forensic Medicine; Forensic science; Genetic testing; Genetic Variation; Genome, Mitochondrial; Genomes; Haplotypes; Heteroplasmy; High-Throughput Nucleotide Sequencing - methods; Humans; massively parallel sequencing; Mitochondria - genetics; Mitochondrial DNA; Mutation; next-generation sequencing; Performance measurement; Precision ID; Precision Medicine; Quality control; Sequence Analysis, DNA - methods; Software; Software Design; Thermo Fisher Scientific; whole genome sequencing; United States > US; whole genome sequencing; Precision ID; Thermo Fisher Scientific; mixture; next-generation sequencing; performance metrics; mitochondrial DNA; variant calling; massively parallel sequencing

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 with nuclear DNA (nDNA) research. The Applied Biosystems™ Precision ID mtDNA Whole Genome Panel (Thermo Fisher Scientif...