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author:

Gao, S. (Gao, S..) [1] | Li, B. (Li, B..) [2] | Mao, L. (Mao, L..) [3] | Wang, W. (Wang, W..) [4] | Zou, D. (Zou, D..) [5] | Zheng, J. (Zheng, J..) [6] | Zhou, M. (Zhou, M..) [7] | Yu, S. (Yu, S..) [8] | Zheng, F. (Zheng, F..) [9] | Yin, Y. (Yin, Y..) [10] | Liu, S.Q. (Liu, S.Q..) [11] | Yang, H. (Yang, H..) [12] | Wang, H. (Wang, H..) [13]

Indexed by:

Scopus

Abstract:

There is an increasing demand for prenatal paternity testing in the forensic applications, which identify biological fathers before the birth of children. Currently, one of the most effective and safe Non-Invasive Prenatal Paternity Testing (NIPPT) methods is high-throughput Next-Generation Sequencing (NGS)-based SNP genotyping of cell-free DNA in maternal peripheral blood. To the best of our knowledge, nearly all methods being used in such applications are based on traditional postnatal paternity tests and/or statistical models of conventional polymorphism sites. These methods have shown unsatisfactory performance due to the uncertainty of fetal genotype. In this study, we propose a cutting-edge methodology called the Prenatal paternity Test Analysis System (PTAS) for cell-free fetal DNA-based NIPPT using NGS-based SNP genotyping. With the implementation of our proposed PTAS methodology, 63 out of 64 early-pregnancy (i.e., less than seven weeks) samples can be precisely identified to determine paternity, except for one sample that does not meet quality control requirements. Although the fetal fraction of the non-identified sample is extremely low (0.51%), its paternity can still be detected by our proposed PTAS methodology through unique molecular identifier tagging. Paternity of the total 313 samples for mid-to-late pregnancy (i.e., more than seven weeks) can be accurately identified. Extensive experiments indicate that our methodology makes a significant breakthrough in the NIPPT theory and will bring substantial benefits to forensic applications. © 2023 The Authors

Keyword:

Cumulative paternity index (CPI) Cumulative probability of exclusion (CPE) Next-generation sequencing (NGS) Non-invasive prenatal paternity testing (NIPPT) Single nucleotide polymorphism (SNP)

Community:

  • [ 1 ] [Gao, S.]BGI Forensic Technology (Shenzhen) Co., Ltd., Shenzhen, 518083, China
  • [ 2 ] [Gao, S.]The Affiliated Luohu Hospital of Shenzhen University, Shenzhen University, Shenzhen, 518000, China
  • [ 3 ] [Li, B.]BGI Forensic Technology (Shenzhen) Co., Ltd., Shenzhen, 518083, China
  • [ 4 ] [Mao, L.]MGI, BGI Australia, L6, CBCRC Building, QIMR, 300 Herston Rd, Herston, QLD 4006, Australia
  • [ 5 ] [Wang, W.]CHINA Electronics Standardization Institute (CESI), Beijing, 100007, China
  • [ 6 ] [Zou, D.]College of Meteorology and Oceanography, National University of Defense Technology, Changsha, 410073, China
  • [ 7 ] [Zheng, J.]BGI Forensic Technology (Shenzhen) Co., Ltd., Shenzhen, 518083, China
  • [ 8 ] [Zhou, M.]Wuhu Public Security Bureau, Wuhu, 241000, China
  • [ 9 ] [Yu, S.]BGI Forensic Technology (Shenzhen) Co., Ltd., Shenzhen, 518083, China
  • [ 10 ] [Zheng, F.]BGI Forensic Technology (Shenzhen) Co., Ltd., Shenzhen, 518083, China
  • [ 11 ] [Yin, Y.]BGI Forensic Technology (Shenzhen) Co., Ltd., Shenzhen, 518083, China
  • [ 12 ] [Liu, S.Q.]School of Economics and Management, Fuzhou University, Fuzhou, 350108, China
  • [ 13 ] [Yang, H.]BGI Forensic Technology (Shenzhen) Co., Ltd., Shenzhen, 518083, China
  • [ 14 ] [Wang, H.]BGI Forensic Technology (Shenzhen) Co., Ltd., Shenzhen, 518083, China

Reprint 's Address:

  • [Gao, S.]BGI Forensic Technology (Shenzhen) Co., China;;[Yang, H.]BGI Forensic Technology (Shenzhen) Co., China

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Source :

Forensic Science International

ISSN: 0379-0738

Year: 2023

Volume: 346

2 . 2

JCR@2023

2 . 2 0 0

JCR@2023

ESI HC Threshold:25

JCR Journal Grade:1

CAS Journal Grade:2

Cited Count:

WoS CC Cited Count:

SCOPUS Cited Count:

ESI Highly Cited Papers on the List: 0 Unfold All

WanFang Cited Count:

Chinese Cited Count:

30 Days PV: 0

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