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SUMMARY:Whole-genome sequencing of cell-free DNA in maternal plasma - Dine
 ika Chandrananda 
DTSTART:20141103T160000Z
DTEND:20141103T170000Z
UID:TALK55140@talks.cam.ac.uk
CONTACT:Florian Markowetz
DESCRIPTION:Cell-free DNA fragments can be found in the plasma\, urine\, s
 ynovial and cerebrospinal fluids of our body. This naturally cleaved DNA i
 s known to be a by-product of cellular apoptosis\, necrosis and active sec
 retion. High-throughput sequencing of cell-free DNA has been used to non-i
 nvasively detect fetal aneuploidy\, monitor organ transplants and scan for
  mutations in tumor DNA.\n\nIn pregnant women\, DNA fragments from the mot
 her and fetus exist as a mixture in the plasma. We use whole-genome sequen
 cing of maternal plasma to investigate the biological characteristics of t
 his cell-free DNA. We analyze various sequence characteristics that result
  from the natural cleavage of these fragments.\n\nInsights gained into cel
 l-free DNA features are used in sensitive corrections to minimize the cove
 rage biases found in the high-throughput data in order to accurately detec
 t fetal trisomy. We show substantial improvements in the accuracy of the s
 tandard trisomy 21 (Down Syndrome) statistical tests employed in current c
 ommercial screens.\n
LOCATION:CRUK CI Lecture Theatre
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