Názov:Correcting read count bias in aneuploidy prediction
Vedúci:Mgr. Jaroslav Budią
Kµúčové slová:aneuploidy prediction, trisomy 21, GC correction, Loess correction, within-sample correction
Abstrakt:Aneuploidy is a genetic mutation causing severe damage to an affected individual. Non-invasive methods of aneuploidy prediction estimate the presence of aneuploidy in a DNA sample by processing outcome of DNA sequencing. An output of the analysis is however highly influenced by GC content bias, caused by uneven composition of DNA. We implemented a method for aneuploidy prediction and introduced current trends in correction of GC bias. Various methods of GC bias correction were designed and implemented on a set of DNA samples. We compared the results of proposed approaches and evaluated the most efficient method of GC correction. By combination of different approaches we improved results of diagnosis compared to standard correction methods.

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