2015
DOI: 10.1016/j.jgg.2015.03.008
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Convergence of Y Chromosome STR Haplotypes from Different SNP Haplogroups Compromises Accuracy of Haplogroup Prediction

Abstract: Short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) are two kinds of commonly used markers in Y chromosome studies of forensic and population genetics. There has been increasing interest in the cost saving strategy by using the STR haplotypes to predict SNP haplogroups. However, the convergence of Y chromosome STR haplotypes from different haplogroups might compromise the accuracy of haplogroup prediction. Here, we compared the worldwide Y chromosome lineages at both haplogroup level and hap… Show more

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Cited by 24 publications
(16 citation statements)
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“…We used Haplogroup Predictor [ 45 ]to assign all Y-STR haplotypes to paternal haplogroups. Due to the possible convergence of Y-STR allele sizes in different NRY haplotypes [ 46 , 47 ], we confirmed the haplogroup predictions by genotyping the relevant diagnostic SNPs using custom TaqMan assays (see above). The Y-chromosome haplogroup frequencies were calculated by hand, while summary statistics were estimated using Arlequin v.3.11 software [ 48 ].…”
Section: Methodsmentioning
confidence: 56%
“…We used Haplogroup Predictor [ 45 ]to assign all Y-STR haplotypes to paternal haplogroups. Due to the possible convergence of Y-STR allele sizes in different NRY haplotypes [ 46 , 47 ], we confirmed the haplogroup predictions by genotyping the relevant diagnostic SNPs using custom TaqMan assays (see above). The Y-chromosome haplogroup frequencies were calculated by hand, while summary statistics were estimated using Arlequin v.3.11 software [ 48 ].…”
Section: Methodsmentioning
confidence: 56%
“…18 out of the 21 possible haplogroup assignments that could be made were observed in the combined dataset, hence pointing out to the high heterogeneity of the Northern Iraqi populations. However, it must be noted that without proper haplogroup assignments by Y-SNP typing, such in silico haplogroup assignments should be treated solely as preliminary findings since being based on Y-STR data alone, they may not always be accurate [ 34 ]. In other words, caution should always be exercised when making relevant conclusions based on such in silico produced data alone.…”
Section: Resultsmentioning
confidence: 99%
“…Males share the same Y‐chromosome haplotype that belongs to Q haplogroup (100% frequency with Haplogroup Predictor) and specifically to Q1a3a (Q‐M3) haplogroup (10% with Haplogroup & Haplo‐I Subclade Predictor). Despite the low percentage obtained with Cullen's predictor, this haplotype can be classified as Q‐M3 since it has been proposed that haplotypes belonging to Q‐M242 haplogroup can be predicted through STRs with high accuracy (Wang et al., ). Interestingly, no match was found among 2116 Native American haplotypes from YHRD or among 46 from the other pre‐Hispanic populations analyzed (Table S1), probably due to the rare allele 26 at DYS390.…”
Section: Resultsmentioning
confidence: 99%