Identifying dysregulated regions in amyotrophic lateral sclerosis through chromatin accessibility outliers
Muhammed Hasan Celik,
Julien Gagneur,
Ryan G Lim
et al.
Abstract:The high heritability of ALS and similar rare diseases contrasts with their low molecular diagnosis rate post-genetic testing, pointing to potential undiscovered genetic factors. DNA accessibility assays quantify the activity of functional elements genome-wide, offering invaluable insights into dysregulated regions. In this research, we introduced EpiOut, a computational toolbox to identify outliers in DNA accessibility. These outliers represent dysregulated regions where DNA accessibility uniquely diverges fr… Show more
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