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Interpreting EHDN locus-based analysis results #60

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gspirito opened this issue Sep 26, 2023 · 0 comments
Open

Interpreting EHDN locus-based analysis results #60

gspirito opened this issue Sep 26, 2023 · 0 comments

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@gspirito
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Hi, I wanted to ask some questions about the locus-based outlier analysis.

I ran expansion hunter on WGS 130 samples, and performed an outlier locus-based analysis.
This is an example of a line in the results:

chr11 575818 577919 ACTGGGAGGCCCCGCCGAG 3.28 Sample_1:14.13,Sample_2:12.61,Sample_3:12.40,Sample_4:11.42 6.15,2.89,3.59,5.41,3.97,2.84,2.40,2.61,1.03,1.90,2.59,12.61,0.95,6.45,2.74,0.89,3.43,1.68,1.93,8.70,7.47,2.25,0.87,0.96,7.56,0.89,6.35,1.08,4.34,5.36,4.00,2.77,1.52,3.09,6.12,10.17,4.36,10.09,5.66,2.54,6.19,2.45,2.64,10.26,12.40,2.23,2.81,2.77,4.18,4.16,1.83,3.49,2.46,1.14,5.81,1.62,11.04,1.01,11.42,1.65,1.04,4.55,1.36,8.65,4.32,14.13,2.92,2.03

Does "Sample_1:14.13" means that Sample_1 has a significantly higher number of reads mapping to the motif "ACTGGGAGGCCCCGCCGAG" at that locus compared to most of the other samples (Z-score = 14.13)?
What exactly does the "3.28" value in the fourth column represent?
Does the list of numbers in the last column comprehend Z-scores of all samples? Or only samples associated with a Z-score above 1?

Thank you very much,

Giovanni

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