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Massively parallel sequencing (MPS) is emerging within the forensic community as a promising technique for high-resolution short tandem repeat (STR) genotyping, discovering both length and sequence polymorphisms. Conversely, the application of MPS to routine casework poses new challenges to the DNA analyst in view of the complex sequence data that is generated with this technology. We developed the web application toaSTR to help forensic experts work with MPS data simply and efficiently. An intuitive graphical user interface guides through the STR genotyping workflow. This versatile software handles data from various popular MPS platforms and supports both commercial and in-house multiplex PCR kits. Users can define locus-specific stutter thresholds and create custom sets of STR markers to be analyzed. toaSTR's innovative sequence-based stutter model predicts and identifies common stutter variants. The algorithm automatically differentiates biological (iso-)alleles from stutter and other artefacts to assist the interpretation of mixed samples. toaSTR features a comprehensive data visualization with interactive diagrams and a dynamic tabular overview of sequence observations. The software provides an interface to biostatistics tools and enables PDF result export in compliance with the sequence notation recommended by the International Society for Forensic Genetics (ISFG). An initial compatibility and concordance study confirmed the software's independent functionality and precise allele calling with data of different MPS platforms, STR amplification kits, and library preparation chemistries. Discussion of genotyping results for single source and mixed samples demonstrates toaSTR's advantages and includes suggestions for future MPS software development. The beta version of toaSTR is freely accessible at www.toastr.online.
This article was published in the following journal.
Name: Forensic science international. Genetics
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Disciplines that apply sciences to law. Forensic sciences include a wide range of disciplines, such as FORENSIC TOXICOLOGY; FORENSIC ANTHROPOLOGY; FORENSIC MEDICINE; FORENSIC DENTISTRY; and others.
The application of dental knowledge to questions of law.
The application of medical knowledge to questions of law.
The application of genetic analyses and MOLECULAR DIAGNOSTIC TECHNIQUES to legal matters and crime analysis.
Scientific study of human skeletal remains with the express purpose of identification. This includes establishing individual identity, trauma analysis, facial reconstruction, photographic superimposition, determination of time interval since death, and crime-scene recovery. Forensic anthropologists do not certify cause of death but provide data to assist in determination of probable cause. This is a branch of the field of physical anthropology and qualified individuals are certified by the American Board of Forensic Anthropology. (From Am J Forensic Med Pathol 1992 Jun;13(2):146)
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule. During DNA sequencing, the bases of a small fragment of DNA are sequentially identified from signals emitted as each fragment is re-synthesized from a ...
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...
Polymerase Chain Reaction (PCR)
PCR (Polymerase Chain Reaction) uses the ability of DNA polymerase (enzymes that create DNA molecules by assembling nucleotides, the building blocks of DNA. These enzymes are essential to DNA replication and usually work in pairs to create two ident...