Microhaplotypes in forensic genetics

Bibliographic Collection: 
CARTA-Inspired Publication
Publication Type: Journal Article
Authors: Oldoni, Fabio; Kidd, Kenneth K.; Podini, Daniele
Year of Publication: 2018
Journal: Forensic Science International: Genetics
Volume: 38
Pagination: 54 - 69
Date Published: 2018
Publication Language: eng
ISBN Number: 1872-4973
Keywords: Biogeographic ancestry inference, Clinical application, Human identification, Massively parallel sequencing, Microhaplotypes, Missing person and relationship identification, Mixture deconvolution, Non-human DNA, Probabilistic genotyping, Single nucleotide polymorphisms
Abstract:

Microhaplotype loci (microhaps, MHs) are a novel type of molecular marker of less than 300 nucleotides, defined by two or more closely linked SNPs associated in multiple allelic combinations. The value of these markers is enhanced by massively parallel sequencing (MPS), which allows the sequencing of both parental haplotypes at each of the many multiplexed loci. This review describes the features of these multi-SNP markers and documents their value in forensic genetics, focusing on individualization, biogeographic ancestry inference, and mixture deconvolution. Foreseeable applications also include missing person identification, relationship testing, and medical diagnostic applications. The technique is not restricted to humans.

Short Title: Forensic Science International: Genetics
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