Investigating and Correcting Plasma DNA Sequencing Coverage Bias to Enhance Aneuploidy Discovery

@inproceedings{Chandrananda2014InvestigatingAC,
  title={Investigating and Correcting Plasma DNA Sequencing Coverage Bias to Enhance Aneuploidy Discovery},
  author={Dineika Chandrananda and Natalie P. Thorne and Devika Ganesamoorthy and Damien L. Bruno and Yuval Benjamini and Terence P. Speed and Howard Robert Slater and Melanie Bahlo},
  booktitle={PloS one},
  year={2014}
}
Pregnant women carry a mixture of cell-free DNA fragments from self and fetus (non-self) in their circulation. In recent years multiple independent studies have demonstrated the ability to detect fetal trisomies such as trisomy 21, the cause of Down syndrome, by Next-Generation Sequencing of maternal plasma. The current clinical tests based on this approach show very high sensitivity and specificity, although as yet they have not become the standard diagnostic test. Here we describe… CONTINUE READING