Noninvasive prenatal paternity testing (NIPAT) through maternal plasma DNA sequencing: a pilot study
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Noninvasive prenatal paternity testing (NIPAT) through maternal plasma DNA sequencing : a pilot study. / Jiang, Haojun; Xie, Yifan; Li, Xuchao; Ge, Huijuan; Deng, Yongqiang; Mu, Haofang; Feng, Xiaoli; Yin, Lu; Du, Zhou; Chen, Fang; He, Nongyue.
In: P L o S One, Vol. 11, No. 9, e0159385, 15.09.2016.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Noninvasive prenatal paternity testing (NIPAT) through maternal plasma DNA sequencing
T2 - a pilot study
AU - Jiang, Haojun
AU - Xie, Yifan
AU - Li, Xuchao
AU - Ge, Huijuan
AU - Deng, Yongqiang
AU - Mu, Haofang
AU - Feng, Xiaoli
AU - Yin, Lu
AU - Du, Zhou
AU - Chen, Fang
AU - He, Nongyue
PY - 2016/9/15
Y1 - 2016/9/15
N2 - 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.
AB - 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.
U2 - 10.1371/journal.pone.0159385
DO - 10.1371/journal.pone.0159385
M3 - Journal article
C2 - 27631491
VL - 11
JO - PLoS ONE
JF - PLoS ONE
SN - 1932-6203
IS - 9
M1 - e0159385
ER -
ID: 169108251