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Microhaplotypes in forensic genetics
Affiliation:1. Department of Forensic Sciences, The George Washington University, 2100 Foxhall Road NW, Washington, DC, 20007, United States;2. Yale University School of Medicine, Department of Genetics, 333 Cedar Street, New Haven, CT, 06520, United States;1. Department of Forensic Genetics, West China School of Basic Science and Forensic Medicine, Sichuan University, 3-17 Renmin South Road, Chengdu 610041, Sichuan, China;2. Department of Forensic Genetics, Institute of Forensic Science, Chengdu Public Security Bureau, Chengdu 610081, Sichuan, China;3. College of Life Sciences, Sichuan University, Chengdu 610041, Sichuan, China;4. Bio-resources Key Laboratory of Minister of Education, Sichuan University, Chengdu 610041, Sichuan, China;1. Department of Forensic Medicine, Nanjing Medical University, Nanjing, Jiangsu, 211166, PR China;2. School of Medicine, Southeast University, Nanjing, Jiangsu, 210009, PR China;3. Department of Forensic Biology, West China School of Basic Sciences and Forensic Medicine, Sichuan University, Chengdu, Sichuan, 610041, PR China;4. Key Laboratory of Targeted Intervention of Cardiovascular Disease, Collaborative Innovation Center for Cardiovascular Disease Translational Medicine, Nanjing Medical University, Nanjing, Jiangsu, 211166, PR China;1. Department of Forensic Medicine, Nanjing Medical University, Nanjing, Jiangsu, 211166, PR China;2. Department of Forensic Biology, West China School of Basic Sciences and Forensic Medicine, Sichuan University, Chengdu, Sichuan, 610041, PR China;3. Institute of Forensic Science, Wuxi Public Security Bureau, Wuxi, 214002, Jiangsu, China;4. Department of Engineering, Columbia University, New York, 10027, USA;1. The George Washington University, Department of Forensic Science, 2100 Foxhall Road, NW, Washington, DC 20007, United States;2. Thermo Fisher Scientific, 180 Oyster Point Boulevard, South San Francisco, CA 94080, United States;3. Yale University School of Medicine, Department of Genetics, 333 Cedar Street, New Haven, CT 06520, United States
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.
Keywords:Microhaplotypes  Single nucleotide polymorphisms  Massively parallel sequencing  Biogeographic ancestry inference  Mixture deconvolution  Human identification  Missing person and relationship identification  Probabilistic genotyping  Clinical application  Non-human DNA
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