Journal article
sEst: Accurate sex-estimation and abnormality detection in methylation microarray data
CH Jung, DJ Park, P Georgeson, K Mahmood, RL Milne, MC Southey, BJ Pope
International Journal of Molecular Sciences | MDPI | Published : 2018
DOI: 10.3390/ijms19103172
Open access
Abstract
DNA methylation influences predisposition, development and prognosis for many diseases, including cancer. However, it is not uncommon to encounter samples with incorrect sex labelling or atypical sex chromosome arrangement. Sex is one of the strongest influencers of the genomic distribution of DNA methylation and, therefore, correct assignment of sex and filtering of abnormal samples are essential for the quality control of study data. Differences in sex chromosome copy numbers between sexes and X-chromosome inactivation in females result in distinctive sex-specific patterns in the distribution of DNA methylation levels. In this study, we present a software tool, sEst, which incorporates clu..
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Awarded by National Health and Medical Research Council
Funding Acknowledgements
This research was funded in part by the Australian National Health and Medical Research Council (NHMRC) Research Fellowship (SRF) APP1061177 to M.C.S. There was no additional external funding received for this study. The APC was funded by Melbourne Bioinformatics.