Journal article

High-resolution characterization of sequence signatures due to non-random cleavage of cell-free DNA

Dineika Chandrananda, Natalie P Thorne, Melanie Bahlo

BMC Medical Genomics | BMC | Published : 2015


BACKGROUND: High-throughput sequencing of cell-free DNA fragments found in human plasma has been used to non-invasively detect fetal aneuploidy, monitor organ transplants and investigate tumor DNA. However, many biological properties of this extracellular genetic material remain unknown. Research that further characterizes circulating DNA could substantially increase its diagnostic value by allowing the application of more sophisticated bioinformatics tools that lead to an improved signal to noise ratio in the sequencing data. METHODS: In this study, we investigate various features of cell-free DNA in plasma using deep-sequencing data from two pregnant women (>70X, >50X) and compare them wit..

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Awarded by Australian Research Council

Funding Acknowledgements

This work was supported by the Victorian State Government Operational Infrastructure Support and Australian Government NHMRC IRIISS. Additional support provided by an Australian Postgraduate Award (to DC); The John and Patricia Farrant Scholarship (to DC); and an Australian Research Council Future Fellowship (grant number FT100100764 to MB). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.