Detection of maternal DNA contamination in the placenta

We use whole-genome sequencing of monozygotic (and dizygotic) twins to detect somatic mutations to infer the cellular history of the twinning event. We recruited monozygotic twins with varying degrees of fetal membranes to compare the twinning events between theses subsets. We used blood, buccal epithelial cell, placenta, and umbilical cord to trace the embryonic somatic mutations. Using the somatic mutations from various tissues we infer the approximate timing of twinning in each monozygotic twin subtypes.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

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Dataset ID	Description	Technology	Samples
EGAD00001008677	We generated whole genome sequence data from a family of monozygotic twins. DNA was obtained from blood, buccal epithelial cells, placenta, and umbilical cords of monozygotic twins. DNA from the parents were also obtained. Libraries were generated using Truseq-PCR free, Truseq nano, and NEBnext Ultra II depending on the availability of DNA. Data was generated on Illumina NovaSeq platform. Raw sequence data was aligned to the human reference genome GRCh38 using bwa mem aligner.	Illumina NovaSeq 6000	3

Publications	Citations
Estimation of intrafamilial DNA contamination in family trio genome sequencing using deviation from Mendelian inheritance. Yoon CJ, Kim SY, Nam CH, Lee J, Park JW, Mun J, Park S, Lee S, Yi B, Min KI, Wiley B, Bolton KL, Lee JH, Kim E, Yoo HJ, Jun JK, Choi JS, Griffith M, Griffith OL, Ju YS. Genome Res 32: 2022 2134-2144	2