TY - JOUR
T1 - Allele frequencies of 31 autosomal short tandem repeat (auSTR) loci obtained using the Precision ID GlobalFiler™ NGS STR Panel v2 in 322 individuals from the Japanese population
AU - Ohuchi, Tsukasa
AU - Guan, Xueting
AU - Hirai, Eriko
AU - Hashiyada, Masaki
AU - Manabe, Sho
AU - Akane, Atsushi
AU - Adachi, Noboru
AU - Tamaki, Keiji
AU - Funayama, Masato
N1 - Funding Information:
Genomic DNA was extracted from blood from 333 unrelated Japanese individuals (195 males and 138 females); 53 samples were derived from cadavers found in Kyoto prefecture (West Japan) that had a postmortem interval of approximately one week, while the remaining 280 samples were obtained from healthy adult volunteers in Miyagi prefecture in eastern Japan. All samples were anonymized before being processed. This study was approved by each university's ethics committee (No. 2020-1-902 in Tohoku University, No. 2016704 in Kansai Medical University, and No. G1140-1 in Kyoto University).
Publisher Copyright:
© 2022 Elsevier B.V.
PY - 2022/11
Y1 - 2022/11
N2 - In human identification methods that target short tandem repeats (STRs), massively parallel sequencing (MPS) technology has made it possible to genotype at the level of the specific sequence itself. This allows for the detection of repeat unit variants and single nucleotide polymorphisms (SNPs) adjacent to the STRs. Using the GlobalFiler™ NGS STR Panel v2, Ion S5, and Converge software, this study constructed a Japanese database of 31 autosomal STRs (auSTRs) and two sex markers from 322 individuals. After excluding some sequence errors and stutters, a total of 31 novel alleles were identified. Additionally, using the allele frequencies of 31 auSTR loci, the match probabilities for the length-based and sequence-based data were calculated to be 1.433 × 10−34 and 9.163 × 10−38, respectively. These values are at least nine orders of magnitude higher than that obtained from 21 auSTR loci in the Japanese population using the conventional capillary electrophoresis method. The database generated in this study is expected to be implemented in forensic practice and used to solve difficult casework.
AB - In human identification methods that target short tandem repeats (STRs), massively parallel sequencing (MPS) technology has made it possible to genotype at the level of the specific sequence itself. This allows for the detection of repeat unit variants and single nucleotide polymorphisms (SNPs) adjacent to the STRs. Using the GlobalFiler™ NGS STR Panel v2, Ion S5, and Converge software, this study constructed a Japanese database of 31 autosomal STRs (auSTRs) and two sex markers from 322 individuals. After excluding some sequence errors and stutters, a total of 31 novel alleles were identified. Additionally, using the allele frequencies of 31 auSTR loci, the match probabilities for the length-based and sequence-based data were calculated to be 1.433 × 10−34 and 9.163 × 10−38, respectively. These values are at least nine orders of magnitude higher than that obtained from 21 auSTR loci in the Japanese population using the conventional capillary electrophoresis method. The database generated in this study is expected to be implemented in forensic practice and used to solve difficult casework.
KW - Allele frequency
KW - Massively parallel sequencing
KW - Population data
KW - Short tandem repeat
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U2 - 10.1016/j.legalmed.2022.102151
DO - 10.1016/j.legalmed.2022.102151
M3 - Article
C2 - 36191412
AN - SCOPUS:85139037088
SN - 1344-6223
VL - 59
JO - Legal Medicine
JF - Legal Medicine
M1 - 102151
ER -