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Whole-genome sequencing of cell-free DNA in maternal plasma

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If you have a question about this talk, please contact Florian Markowetz.

Cell-free DNA fragments can be found in the plasma, urine, synovial and cerebrospinal fluids of our body. This naturally cleaved DNA is known to be a by-product of cellular apoptosis, necrosis and active secretion. High-throughput sequencing of cell-free DNA has been used to non-invasively detect fetal aneuploidy, monitor organ transplants and scan for mutations in tumor DNA .

In pregnant women, DNA fragments from the mother and fetus exist as a mixture in the plasma. We use whole-genome sequencing of maternal plasma to investigate the biological characteristics of this cell-free DNA . We analyze various sequence characteristics that result from the natural cleavage of these fragments.

Insights gained into cell-free DNA features are used in sensitive corrections to minimize the coverage biases found in the high-throughput data in order to accurately detect fetal trisomy. We show substantial improvements in the accuracy of the standard trisomy 21 (Down Syndrome) statistical tests employed in current commercial screens.

This talk is part of the Seminars on Quantitative Biology @ CRUK Cambridge Institute series.

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