Noninvasive prenatal paternity testing (NIPAT) through maternal plasma DNA sequencing: a pilot study

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

Dokumenter

  • Haojun Jiang
  • Yifan Xie
  • Xuchao Li
  • Huijuan Ge
  • Yongqiang Deng
  • Haofang Mu
  • Xiaoli Feng
  • Lu Yin
  • Zhou Du
  • Fang Chen
  • Nongyue He
Short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) have been already used to perform noninvasive prenatal paternity testing from maternal plasma DNA. The frequently used technologies were PCR followed by capillary electrophoresis and SNP typing array, respectively. Here, we developed a noninvasive prenatal paternity testing (NIPAT) based on SNP typing with maternal plasma DNA sequencing. We evaluated the influence factors (minor allele frequency (MAF), the number of total SNP, fetal fraction and effective sequencing depth) and designed three different selective SNP panels in order to verify the performance in clinical cases. Combining targeted deep sequencing of selective SNP and informative bioinformatics pipeline, we calculated the combined paternity index (CPI) of 17 cases to determine paternity. Sequencing-based NIPAT results fully agreed with invasive prenatal paternity test using STR multiplex system. Our study here proved that the maternal plasma DNA sequencing-based technology is feasible and accurate in determining paternity, which may provide an alternative in forensic application in the future.
OriginalsprogEngelsk
Artikelnummere0159385
TidsskriftP L o S One
Vol/bind11
Udgave nummer9
Antal sider12
ISSN1932-6203
DOI
StatusUdgivet - 15 sep. 2016

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