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Research paper| Volume 57, 102647, March 2022

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Pairwise kinship analysis of 17 pedigrees using massively parallel sequencing

  • Ruiyang Tao
    Affiliations
    Shanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Academy of Forensic Sciences, Ministry of Justice, Shanghai 200063, PR China
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  • Qiannan Xu
    Affiliations
    Shanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Academy of Forensic Sciences, Ministry of Justice, Shanghai 200063, PR China

    Institute of Forensic Medicine, West China School of Basic Medical Sciences & Forensic Medicine, Sichuan University, Chengdu 610041, PR China
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  • Shouyu Wang
    Affiliations
    Department of Forensic Medicine, Shanghai Medical College, Fudan University, Shanghai, PR China
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  • Ruocheng Xia
    Affiliations
    Shanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Academy of Forensic Sciences, Ministry of Justice, Shanghai 200063, PR China
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  • Qi Yang
    Affiliations
    Shanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Academy of Forensic Sciences, Ministry of Justice, Shanghai 200063, PR China
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  • Anqi Chen
    Affiliations
    Shanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Academy of Forensic Sciences, Ministry of Justice, Shanghai 200063, PR China

    Department of Forensic Medicine, Shanghai Medical College, Fudan University, Shanghai, PR China
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  • Yiling Qu
    Affiliations
    Shanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Academy of Forensic Sciences, Ministry of Justice, Shanghai 200063, PR China

    Department of Forensic Science, Medical School of Soochow University, Suzhou 215123, PR China
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  • Yehui Lv
    Affiliations
    Shanghai University of Medicine & Health Sciences, Shanghai 200237, PR China
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  • Suhua Zhang
    Correspondence
    Corresponding authors.
    Affiliations
    Shanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Academy of Forensic Sciences, Ministry of Justice, Shanghai 200063, PR China
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  • Chengtao Li
    Correspondence
    Corresponding authors.
    Affiliations
    Shanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Academy of Forensic Sciences, Ministry of Justice, Shanghai 200063, PR China
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Published:November 30, 2021DOI:https://doi.org/10.1016/j.fsigen.2021.102647

      Highlights

      • The ForenSeq Signature Kit was used to sequence 243 individuals from 17 families.
      • Both the LR and IBS methods were used for different kinship analysis.
      • Different markers/marker combinations were used in LR and IBS calculation.

      Abstract

      With the tremendous development of massively parallel sequencing (MPS) in the last decade, it has been widely applied in basic science, clinical diagnostics, microbial genomics, as well as forensic genetics. MPS has lots of advantages that may facilitate the kinship analysis. In this study, 243 Chinese Han individuals from 17 families were involved and sequenced using the ForenSeq™ DNA Signature Prep Kit (Verogen, Inc., San Diego, USA), which provided the sequence information of 27 autosomal STRs (A-STRs), 7 X chromosomal STRs (X-STRs), 24 Y chromosomal STRs (Y-STRs) and 94 identity-informative SNPs (iSNPs). A total of 275 pairs of parent-child, 123 pairs of full siblings, 1 pair of twins, 1 pair of half siblings, 158 pairs of grandparent-grandchild, 222 pairs of uncle/aunt-nephew/niece and 121 pairs of first cousins, as well as 701 pairs of unrelated individuals were identified. Using both likelihood ratio (LR) and identical by state (IBS) methods, the kinship analysis was conducted among these relative and non-relative pairs based on the A-STRs and SNPs. As a result, the ForenSeq Signature Kit could solve the analysis of parent-child (t1 = −4, t2 = 4), full siblings (t1 = −2, t2 = 2) and most second-degree kinships (t1 = −1, t2 = 1) using the LR method. When the IBS method was applied, 123 full sibling pairs had a higher average IBS value than other kinship groups in this study. And the IBS method could play a role in the testing of parent-child and full siblings.

      Keywords

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