Probabilistic interpretation of the Amelogenin locus
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Updated: Nov 20, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Jo-Anne Bright1, John Buckleton2, Duncan Taylor3
1Institute of Environmental Science and Research Limited, Private Bag 92021, Auckland, 1142, New Zealand.
Abstract:
We describe a method to assign weights to genotype combinations at the Amelogenin locus. It is a typical practise in forensic laboratories that once the weight exceeds a threshold (such as 99 %), then they can be considered to be resolved enough to interpret (for example to load onto a database). We found that unless an individual is a clear major (or minor) contributor, the genotype weights do not typically exceed 99 % for any genotype. LRs have not been traditionally assigned for the Amelogenin locus and are small compared to an LR assigned for a modern day STR multiplex where, for a more discriminatory locus, the per locus LR for a resolved contributor could be in the order of tens or hundreds. The method described uses per contributor template values for a previously interpreted profile. The discrimination power is restricted, with a maximum possible LR of 2 for a fully resolved genotype, due to the limited number of alleles and hence genotypes and assuming equal proportions of genders in the population. However, it has a good power to exclude when the component is well resolved and non-concordant with a POI.
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