RETRACTED: Concordance and characterization of massively parallel sequencing at 58 STRs in a Tibetan population
Abstract Background Massively parallel sequencing (MPS) is a promising supplementary method for forensic casework in short tandem repeats (STRs) genotyping, owing to several advantageous features in comparison to traditional capillary electrophoresis (CE). However, the application of MPS in casework...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2021-04-01
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| Series: | Molecular Genetics & Genomic Medicine |
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| Online Access: | https://doi.org/10.1002/mgg3.1626 |
| _version_ | 1797302198266232832 |
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| author | Hui Li Cheng Zhang Guoqing Song Ke Ma Yu Cao Xueying Zhao Qinrui Yang Jianhui Xie |
| author_facet | Hui Li Cheng Zhang Guoqing Song Ke Ma Yu Cao Xueying Zhao Qinrui Yang Jianhui Xie |
| author_sort | Hui Li |
| collection | DOAJ |
| description | Abstract Background Massively parallel sequencing (MPS) is a promising supplementary method for forensic casework in short tandem repeats (STRs) genotyping, owing to several advantageous features in comparison to traditional capillary electrophoresis (CE). However, the application of MPS in casework requires accessible datasets from the worldwide population to enrich the allele frequencies of sequence‐based STR genotypes. Methods In this study, we report the characterization of sequence‐based allele frequencies of 58 STRs from a Tibetan population comprising 120 unrelated individuals using the ForenSeq™ DNA Signature Prep Kit. A concordance study evaluating MPS and CE allele data was performed to ensure that MPS is compatible with current CE‐based forensic databases. The diversity of observed alleles, allele frequencies, and forensic parameters per locus by length (LB), sequence without flanking region (RSB), and sequence with flanking region (FSB) were analyzed and compared. Results The concordance study demonstrated a concordance rate exceeding 99%. The combined random match probability (RMP) for the 26 A‐STRs was 2.04 × 10–29, 1.93 × 10–31, and 9.56 × 10–33 for LB, RSB, and FSB, respectively. Similar trends were observed in other forensic parameters resulting from the increase in the number of unique alleles available. A total of 111 and 113 unique haplotypes in the Y‐STR loci were observed when using length‐based and sequence‐based alleles, respectively. In addition, we identified 35 novel alleles at 25 loci and 25 polymorphisms in the flanking regions at 17 STRs. Conclusions Our data suggest that MPS‐ and CE‐derived alleles are compatible. MPS‐based analysis of the STR data substantially increased the allele diversity and improved the forensic parameters, which clearly demonstrated the advantages of MPS in comparison to CE. With more pooled data and larger‐scale validation, MPS could play a valuable role in forensic genetics and might be an additional tool for routine casework. |
| first_indexed | 2024-03-07T23:33:20Z |
| format | Article |
| id | doaj.art-39a4a7310127413c87f77ba4f900f30f |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-03-07T23:33:20Z |
| publishDate | 2021-04-01 |
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| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-39a4a7310127413c87f77ba4f900f30f2024-02-20T10:41:15ZengWileyMolecular Genetics & Genomic Medicine2324-92692021-04-0194n/an/a10.1002/mgg3.1626RETRACTED: Concordance and characterization of massively parallel sequencing at 58 STRs in a Tibetan populationHui Li0Cheng Zhang1Guoqing Song2Ke Ma3Yu Cao4Xueying Zhao5Qinrui Yang6Jianhui Xie7Department of Forensic Medicine School of Basic Medical Sciences Fudan University Shanghai ChinaCenter for Material Evidence Tibet Autonomous Region Public Security Lhasa, Tibet ChinaLaboratory of Forensic Evidence and Science TechnologyXianyang Municipal Public Security Bureau Xianyang Shaanxi ChinaShanghai Key Laboratory of Crime Scene Evidence Shanghai Research Institute of Criminal Science and TechnologyShanghai Municipal Public Security Bureau Shanghai ChinaShanghai Key Laboratory of Crime Scene Evidence Shanghai Research Institute of Criminal Science and TechnologyShanghai Municipal Public Security Bureau Shanghai ChinaNational Demonstration Center for Experimental Biology Education School of Life Sciences Fudan University Shanghai ChinaDepartment of Forensic Medicine School of Basic Medical Sciences Fudan University Shanghai ChinaDepartment of Forensic Medicine School of Basic Medical Sciences Fudan University Shanghai ChinaAbstract Background Massively parallel sequencing (MPS) is a promising supplementary method for forensic casework in short tandem repeats (STRs) genotyping, owing to several advantageous features in comparison to traditional capillary electrophoresis (CE). However, the application of MPS in casework requires accessible datasets from the worldwide population to enrich the allele frequencies of sequence‐based STR genotypes. Methods In this study, we report the characterization of sequence‐based allele frequencies of 58 STRs from a Tibetan population comprising 120 unrelated individuals using the ForenSeq™ DNA Signature Prep Kit. A concordance study evaluating MPS and CE allele data was performed to ensure that MPS is compatible with current CE‐based forensic databases. The diversity of observed alleles, allele frequencies, and forensic parameters per locus by length (LB), sequence without flanking region (RSB), and sequence with flanking region (FSB) were analyzed and compared. Results The concordance study demonstrated a concordance rate exceeding 99%. The combined random match probability (RMP) for the 26 A‐STRs was 2.04 × 10–29, 1.93 × 10–31, and 9.56 × 10–33 for LB, RSB, and FSB, respectively. Similar trends were observed in other forensic parameters resulting from the increase in the number of unique alleles available. A total of 111 and 113 unique haplotypes in the Y‐STR loci were observed when using length‐based and sequence‐based alleles, respectively. In addition, we identified 35 novel alleles at 25 loci and 25 polymorphisms in the flanking regions at 17 STRs. Conclusions Our data suggest that MPS‐ and CE‐derived alleles are compatible. MPS‐based analysis of the STR data substantially increased the allele diversity and improved the forensic parameters, which clearly demonstrated the advantages of MPS in comparison to CE. With more pooled data and larger‐scale validation, MPS could play a valuable role in forensic genetics and might be an additional tool for routine casework.https://doi.org/10.1002/mgg3.1626flanking regionforensic geneticsMPSpopulation geneticsSTR |
| spellingShingle | Hui Li Cheng Zhang Guoqing Song Ke Ma Yu Cao Xueying Zhao Qinrui Yang Jianhui Xie RETRACTED: Concordance and characterization of massively parallel sequencing at 58 STRs in a Tibetan population Molecular Genetics & Genomic Medicine flanking region forensic genetics MPS population genetics STR |
| title | RETRACTED: Concordance and characterization of massively parallel sequencing at 58 STRs in a Tibetan population |
| title_full | RETRACTED: Concordance and characterization of massively parallel sequencing at 58 STRs in a Tibetan population |
| title_fullStr | RETRACTED: Concordance and characterization of massively parallel sequencing at 58 STRs in a Tibetan population |
| title_full_unstemmed | RETRACTED: Concordance and characterization of massively parallel sequencing at 58 STRs in a Tibetan population |
| title_short | RETRACTED: Concordance and characterization of massively parallel sequencing at 58 STRs in a Tibetan population |
| title_sort | retracted concordance and characterization of massively parallel sequencing at 58 strs in a tibetan population |
| topic | flanking region forensic genetics MPS population genetics STR |
| url | https://doi.org/10.1002/mgg3.1626 |
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