Massively parallel sequencing of 25 autosomal STRs including SE33 in four population groups for forensic applications
Abstract The introduction of massively parallel sequencing (MPS) in forensic investigation enables sequence-based large-scale multiplexing beyond size-based analysis using capillary electrophoresis (CE). For the practical application of MPS to forensic casework, many population studies have provided...
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| Format: | Article |
| Language: | English |
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Nature Portfolio
2021-02-01
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| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-021-82814-z |
| _version_ | 1818430617649414144 |
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| author | Ye-Lim Kwon Bo Min Kim Eun Young Lee Kyoung-Jin Shin |
| author_facet | Ye-Lim Kwon Bo Min Kim Eun Young Lee Kyoung-Jin Shin |
| author_sort | Ye-Lim Kwon |
| collection | DOAJ |
| description | Abstract The introduction of massively parallel sequencing (MPS) in forensic investigation enables sequence-based large-scale multiplexing beyond size-based analysis using capillary electrophoresis (CE). For the practical application of MPS to forensic casework, many population studies have provided sequence data for autosomal short tandem repeats (STRs). However, SE33, a highly polymorphic STR marker, has little sequence-based data because of difficulties in analysis. In this study, 25 autosomal STRs were analyzed, including SE33, using an in-house MPS panel for 350 samples from four populations (African–American, Caucasian, Hispanic, and Korean). The barcoded MPS library was generated using a two-step PCR method and sequenced using a MiSeq System. As a result, 99.88% genotype concordance was obtained between length- and sequence-based analyses. In SE33, the most discordances (eight samples, 0.08%) were observed because of the 4 bp deletion between the CE and MPS primer binding sites. Compared with the length-based CE method, the number of alleles increased from 332 to 725 (2.18-fold) for 25 autosomal STRs in the sequence-based MPS method. Notably, additional 129 unique alleles, a 4.15-fold increase, were detected in SE33 by identifying sequence variations. This population data set provides sequence variations and sequence-based allele frequencies for 25 autosomal STRs. |
| first_indexed | 2024-12-14T15:36:16Z |
| format | Article |
| id | doaj.art-ff472237649447999bea6349d0a0cc98 |
| institution | Directory Open Access Journal |
| issn | 2045-2322 |
| language | English |
| last_indexed | 2024-12-14T15:36:16Z |
| publishDate | 2021-02-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj.art-ff472237649447999bea6349d0a0cc982022-12-21T22:55:43ZengNature PortfolioScientific Reports2045-23222021-02-011111810.1038/s41598-021-82814-zMassively parallel sequencing of 25 autosomal STRs including SE33 in four population groups for forensic applicationsYe-Lim Kwon0Bo Min Kim1Eun Young Lee2Kyoung-Jin Shin3Department of Forensic Medicine, Yonsei University College of MedicineDepartment of Forensic Medicine, Yonsei University College of MedicineDepartment of Forensic Medicine, Yonsei University College of MedicineDepartment of Forensic Medicine, Yonsei University College of MedicineAbstract The introduction of massively parallel sequencing (MPS) in forensic investigation enables sequence-based large-scale multiplexing beyond size-based analysis using capillary electrophoresis (CE). For the practical application of MPS to forensic casework, many population studies have provided sequence data for autosomal short tandem repeats (STRs). However, SE33, a highly polymorphic STR marker, has little sequence-based data because of difficulties in analysis. In this study, 25 autosomal STRs were analyzed, including SE33, using an in-house MPS panel for 350 samples from four populations (African–American, Caucasian, Hispanic, and Korean). The barcoded MPS library was generated using a two-step PCR method and sequenced using a MiSeq System. As a result, 99.88% genotype concordance was obtained between length- and sequence-based analyses. In SE33, the most discordances (eight samples, 0.08%) were observed because of the 4 bp deletion between the CE and MPS primer binding sites. Compared with the length-based CE method, the number of alleles increased from 332 to 725 (2.18-fold) for 25 autosomal STRs in the sequence-based MPS method. Notably, additional 129 unique alleles, a 4.15-fold increase, were detected in SE33 by identifying sequence variations. This population data set provides sequence variations and sequence-based allele frequencies for 25 autosomal STRs.https://doi.org/10.1038/s41598-021-82814-z |
| spellingShingle | Ye-Lim Kwon Bo Min Kim Eun Young Lee Kyoung-Jin Shin Massively parallel sequencing of 25 autosomal STRs including SE33 in four population groups for forensic applications Scientific Reports |
| title | Massively parallel sequencing of 25 autosomal STRs including SE33 in four population groups for forensic applications |
| title_full | Massively parallel sequencing of 25 autosomal STRs including SE33 in four population groups for forensic applications |
| title_fullStr | Massively parallel sequencing of 25 autosomal STRs including SE33 in four population groups for forensic applications |
| title_full_unstemmed | Massively parallel sequencing of 25 autosomal STRs including SE33 in four population groups for forensic applications |
| title_short | Massively parallel sequencing of 25 autosomal STRs including SE33 in four population groups for forensic applications |
| title_sort | massively parallel sequencing of 25 autosomal strs including se33 in four population groups for forensic applications |
| url | https://doi.org/10.1038/s41598-021-82814-z |
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