Criteria for selecting microhaplotypes: mixture detection and deconvolution

Investigative Genetics
Kenneth K Kidd, William C Speed

Abstract

DNA 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. When 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. Microhaplotypes with Ae values of ...Continue Reading

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Citations

Jun 19, 2016·Human Genomics·Kenneth K Kidd
Dec 19, 2017·International Journal of Legal Medicine·Ozlem BulbulKenneth K Kidd
Jun 23, 2018·Electrophoresis·Kenneth K KiddJoseph Chang
Jul 19, 2018·PloS One·Tian WeiDaixin Huang
Dec 18, 2018·Electrophoresis·Jing ZhuLin Zhang
Mar 30, 2019·PLoS Genetics·Aleksandra I AdamovichJeffrey D Parvin
Mar 25, 2019·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Shirley S W ChengMary H Y Tang
Apr 20, 2017·Journal of the International Neuropsychological Society : JINS·Laura J SpeedRutvik H Desai
Jun 17, 2020·Royal Society Open Science·Aliye KureshiLagabaiyila Zha
Jun 25, 2018·International Journal of Legal Medicine·Peng ChenFeng Chen
Feb 14, 2019·International Journal of Legal Medicine·Lindsay BennettDaniele Podini
May 29, 2018·International Journal of Legal Medicine·Ruiyang TaoChengtao Li
Aug 28, 2020·Frontiers in Genetics·Daniel S Standage, Rebecca N Mitchell
Nov 23, 2019·Forensic Science International. Genetics·Lisa DierigPeter Wiegand
Jan 28, 2021·International Journal of Legal Medicine·Riga WuHongyu Sun
Jan 29, 2021·International Journal of Legal Medicine·Adam Staadig, Andreas Tillmar
Feb 8, 2021·Forensic Science International : Synergy·Yingai ZhangShufang Zhang
May 22, 2021·Forensic Science International. Genetics·Kenneth K KiddAndrew J Pakstis
Aug 12, 2021·International Journal of Legal Medicine·Jianye GeBruce Budowle
Oct 17, 2021·International Journal of Legal Medicine·Xingchun ZhaoZichun Hua
Oct 14, 2021·Human Genetics·Andrew J PakstisKenneth K Kidd

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Methods Mentioned

BETA
genotyping
electrophoresis

Software Mentioned

PHASE

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