Detection of aneuploidy in patients with cancer through amplification of long interspersed nucleotide elements (LINEs)
Creators
- 1. Johns Hopkins University
Description
The Within-Sample AneupLoidy DetectiOn (WALDO), employs supervised machine learning to detect the small changes in multiple chromosome arms that are often present in cancers. Using single-nucleotide polymorphisms within the amplified LINEs, WALDO concomitantly assesses allelic imbalances, microsatellite instability, and sample identification. WALDO can be used on samples containing only a few nanograms of DNA and as little as 1% neoplastic content and has a variety of applications in cancer diagnostics and forensic science.
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Additional details
Funding
- Predicting Impact of Genetic Variation on Splicing 5F31HG007804-02
- National Institutes of Health