Bijlage A. Summery of concepts dna analysis and interpretation
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This document contains keywords of concepts of which an expert in the field of Human
DNA analysis and interpretation should minimally have a basic knowledge.
Keywords
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Forensic biology
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Sources of DNA evidence
Crime scene investigation and laboratory analysis of biological evidence
Identification and presumptive testing of body fluids (blood, semen, saliva)
Confirmatory assays for body fluid identification (immunoassays)
Uncertainty concerning attribution of DNA (particularly at low levels) to specific
body fluids
General
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The structure of DNA and the variability of the human DNA genome
Loci, alleles, genotypes and DNA profiles
Polymorphisms commonly used for DNA testing
The molecular biological basis of forensic DNA tests; using the DNA profile to identify
a forensic sample
Extraction and quantification of DNA
Polymerase chain reaction
Short tandem repeats and mutation processes
Forensic multiplex STR typing kits
DNA separation by CE and LIF detection
Analysis of results, including the use of ladders for fragment sizing, use of analytical
thresholds and identification of artefacts such as stutter, ‘pull-up’ and identification
of mixed samples.
Qc/qa
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Quality control and quality assurance of forensic DNA analysis
Laboratory accreditation, personnel certification and proficiency testing
Validation studies
Laboratory error rates
Understanding and minimizing the risk of contamination in the forensic process: methods
of reducing the occurrence of contamination and detecting when it has occurred
Continuous improvement and quality
Dna statistics
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Likelihood Ratio (LR)
Bayes Theorem
Product rule to calculate the probability of independent variables
DNA mixture deconvolution and recommended procedures for analysing mixed samples (LR
and RMNE (‘Random Man not Excluded’)/CPI (‘Combined Probability of Inclusion’))
Accounting for relatives, where applicable, in calculating evidential strength
Database issues
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Inclusion criteria and search (im)possibilities of the national DNA database including
the detection of false negative and false positive matches
Population Genetics
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Hardy-Weinberg equilibrium/Linkage equilibrium
Population Substructure
Allele frequencies, genotype probabilities
Applying the product rule for independent events
Conditional match probabilities
Fst/Theta population substructure correction; correction for possible allele dropout
Sampling variation in construction of DNA population databases
Proper Interpretation of the Evidence
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Common Logical Fallacies (Prosecution/Defence Fallacy)
Evidential strength of database match
DNA database search controversy
Avoidance of cognitive bias
Minimal traces (Low Template DNA Analysis)
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Evaluation of potential low template DNA typing results.
Allele and/or locus dropout due to degradation, preferential amplification, stochastic
effects and stochastic thresholds.
Replication and consensus DNA profiles
Approaches for the statistical evaluation of DNA profiles from low template DNA samples
Y-chromosome Testing
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Y-chromosome evolution and its consequences for forensic analyses
Patrilineal inheritance
Laboratory analysis of Y-chromosome STR’s
Population genetics of Y-STR haplotypes
Use of Y-STR population databases (YHRD)
Statistical evaluation of Y-chromosome haplotypes
Interpretation of Y-STR mixtures
Kinship DNA Testing
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Inheritance of genetic polymorphisms
Technical procedures for determining kinship
Statistical evaluation of kinship (e.g. paternity index, sibling index, Bayesian networks)
Incorporation of the presence of mutations and null-alleles in the statistical evaluation
Principles of disaster/mass identification
Principles of familial searching in databases
Use of Y-STR and mtDNA analysis to narrow candidate lists from familial searching
in Databases
Externally Visible Characteristics
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Evolution and migration of Homo sapiens
Population genetics of externally visible characteristics
Principles of determining the geographic origin of an individual
Principles of determining externally visible characteristics
Knowledge about genes involved in the biosynthesis of melanine (skin and hair pigmentation,
iris colour)
Technical procedures for determining geographic origin or externally visible characteristics
Approaches for the interpretation of genotyping results for determining geographic
origin or externally visible characteristics
Knowledge of the limitations of determining geographic origins or externally visible
characteristics
Mitochondrial DNA Testing
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Mitochondrial DNA evolution and its consequences for forensic analysis
Matrilineal inheritance, variable mutation rates, heteroplasmy and principles for
evaluating close non-matching mtDNA sequences
Laboratory analysis of mitochondrial DNA (e.g. Sanger sequencing, mini-sequencing)
Population genetics of mitochondrial DNA haplotypes
Use of mitochondrial DNA databases (EMPOP)
Statistical evaluation of mitochondrial DNA matches
Reporting at Activity level
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Understanding of the principles of case assessment and interpretation (CAI) and in particular, balance, logic, robustness and transparency
Formulation and evaluation of appropriate hypotheses
Understanding use of data and experience in evaluation of hypotheses:
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• Knowledge concerning transfer of cells and DNA (primary, secondary, tertiary)
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• Knowledge concerning persistence of DNA and the impact of e.g. environmental conditions
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• Extensive experience of forensic DNA analysis and interpretation in forensic casework
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• Transparency regarding any limitations of the data used
Understanding of the principles of probabilistic (Bayesian) networks in evidence interpretation