2020
DOI: 10.1038/s41598-020-58980-x
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Abstract: Microhaplotypes are an emerging type of forensic genetic marker that are expected to support multiple forensic applications. Here, we developed a 124-plex panel for microhaplotype genotyping based on next-generation sequencing (NGS). The panel yielded intralocus and interlocus balanced sequencing data with a high percentage of effective reads. A full genotype was determined with as little as 0.1 ng of input DNA. Parallel mixture experiments and in-depth comparative analyses were performed with capillary-electr… Show more

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Cited by 24 publications
(11 citation statements)
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References 29 publications
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“…Incorrect calls of haplotypes can be judged by presenting much fewer reads than the other haplotypes in individual samples. (2) Allele coverage ratio (ACR), which is calculated as the depths of lower coverage allele/the depths of higher coverage allele in heterozygotes (the allele here means the haplotype of an MH locus) [22]. (3) Percentage of depths of coverage (DOC%), which is calculated as the percentage of MH locus coverage/total sample coverage.…”
Section: Panel Sequencing and Mps Data Analysismentioning
confidence: 99%
“…Incorrect calls of haplotypes can be judged by presenting much fewer reads than the other haplotypes in individual samples. (2) Allele coverage ratio (ACR), which is calculated as the depths of lower coverage allele/the depths of higher coverage allele in heterozygotes (the allele here means the haplotype of an MH locus) [22]. (3) Percentage of depths of coverage (DOC%), which is calculated as the percentage of MH locus coverage/total sample coverage.…”
Section: Panel Sequencing and Mps Data Analysismentioning
confidence: 99%
“…In human STR analyses, the greatest challenge is mixture deconvolution. NGS technology presents an increased power of discrimination of STR alleles using the intrinsic SNPs genetic microhaplotypesa combination of 2-4 closely linked SNPs within an allele (Kidd et al, 2014;Pang et al, 2020). However, the acceptance of analyses programs to deconvolve mixtures has not been standardized to the same level as it has for STRs.…”
Section: Next-generation Sequencing: the Presentmentioning
confidence: 99%
“…MHs present some advantages over standard STRs: (1) a multiallelic nature and the absence of STR structures, which prevents Taq polymerase slippage and stutter peak generation; (2) balanced PCR amplification due to the similar lengths of MH amplicons (preferential PCR amplification for shorter alleles commonly occurs with STRs); and (3) lower mutation rates than STRs. Since Kidd proposed this powerful new type of genetic marker in 2013 [26], an increasing number of studies have primarily focused on the following aspects: (1) finding and evaluating more MHs with higher effective number of alleles (A e ) to yield low random match probabilities (RMPs) and high probabilities of enhancing deconvolution performance [27,28]; (2) expanding the forensic application scenarios of MHs (e.g., biogeographic ancestry inference [28][29][30][31][32][33][34][35][36][37][38][39][40], analysis of degraded samples [41][42][43][44], human and missing-person identification [27,38,[45][46][47][48][49][50], and relationship testing [51][52][53][54][55][56][57][58]); and (3) deconvoluting two-person and more-than-two-person DNA mixtures by different probabilistic models [42,…”
Section: Introductionmentioning
confidence: 99%