ArticleInvestigative genetics2015
Criteria for selecting microhaplotypes: mixture detection and deconvolution.
Article in Investigative genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed.
- Applicability of imprinted DIP-SNP markers in DNA mixture analysis: a pilot study.International journal of legal medicine · 2026Article
- Developmental validation of a six-dye Multi-InDels kit for personal identification and paternity testing of highly degraded DNA samples.International journal of legal medicine · 2026Article
- A novel 16-plex DIP-SNP panel for forensic analysis of imbalanced DNA mixtures in a Han Chinese population.International journal of legal medicine · 2026Article
- Forensic validation and population genetic evaluation of an MPS-based integrated microhaplotype and Y-SNP/STR (MY) system.Biochemistry and biophysics reports · 2026Article
- Forensic Evaluation of the Ion AmpliSeq MH-74 Microhaplotype Panel in the Portuguese Population.Genes · 2026Article
- DNA Mixture Deconvolution: A Four-Strategy Framework from Physical Separation to Database Searching.Genes · 2026Review
- Assessment of a microhaplotype panel for human identification and ancestry inference in Brazil.International journal of legal medicine · 2025Article
- Article
- Molecular Identification of the Italian Soldiers Found in the Second World War Mass Grave of Ossero.Genes · 2025Article
- Application of a new composite genetic marker semen-specific methylation-microhaplotype in the analysis of semen-vaginal fluid mixtures.Royal Society open science · 2025Article
- Screening a new set of microhaplotypes in exonic regions for sample identity testing and paternity testing during whole exome sequencing analysis.International journal of legal medicine · 2025Article
- Developmental and validation of a novel small and high-efficient panel of microhaplotypes for forensic genetics by the next generation sequencing.BMC genomics · 2024Article
- Dense single nucleotide polymorphism testing revolutionizes scope and degree of certainty for source attribution in forensic investigations.Croatian medical journal · 2024Review
- Human complex mixture analysis by "FD Multi-SNP Mixture Kit".Frontiers in genetics · 2024Article
- Forensic biogeographical ancestry inference: recent insights and current trends.Genes & genomics · 2023Review
- Forensic genetic analysis of single-nucleotide polymorphisms and microhaplotypes in Koreans through next-generation sequencing using precision ID identity panel.Genes & genomics · 2023Article
- Article
- A multipurpose panel of microhaplotypes for use with STR markers in casework.Forensic science international. Genetics · 2022Article
- An overview of SNP-SNP microhaplotypes in the 26 populations of the 1000 Genomes Project.International journal of legal medicine · 2022Article
- State of the Art for Microhaplotypes.Genes · 2022Article
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDNA sequencing is likely to become a standard typing method in forensics in the near future. We define a microhaplotype to be a locus with two or more single nucleotide polymorphisms (SNPs) that occur within a short segment of DNA (e.g., 200 bp) that can be covered by a single sequence run and collectively define a multiallelic locus. Microhaplotypes can be highly informative for many forensic questions, including detection of mixtures of two or more sources in a DNA sample, a common problem in forensic practice.
resultsWhen all alleles are equally frequent, the probability of detecting three or more alleles in a mixture is at maximum. The classical population genetics concept of effective number of alleles at a locus, termed Ae, converts the unequal allele frequencies at a locus into a value that is equivalent to some number of equally frequent alleles, allowing microhaplotype loci to be ranked. The expectations for the ability to qualitatively detect mixtures are given for different integer values of Ae, and the cumulative probabilities of detecting mixtures based on testing multiple microhaps are shown to exceed 95% with as few as five loci with average Ae values of even slightly greater than 3.0.
conclusionsMicrohaplotypes with Ae values of >3 will be exceedingly useful in ordinary forensic practice. Based on our studies, 3-SNP microhaplotypes will sometimes meet this criterion, but 4-SNP microhaplotypes can even exceed this criterion and have values >4.
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