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The disease burden is also substantial as shown in a comparison of the world wide burden to patients of suffering from NP assessed in a cross national study [ 17].
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Given the population-wide burden of CMRD, novel ways of assessing risk and providing feedback to support behavior change are needed.
This genome-wide burden suggests an extensive polygenic contribution to SUDEP causation.
The variant selection procedure for the genome-wide burden analysis is detailed in the Supplementary Method 8.1.
Variant and individual-level QC was performed as for the genome-wide burden analysis (Supplementary Method 6).
The burden test used in our genome-wide burden analysis is sensitive to linkage disequilibrium (increased type I error rate).
We tested the genome-wide burden of rare (or novel) deleterious variants in the SUDEP cohort against both control cohorts separately.
Understanding these processes can offer new targets for therapeutic intervention and are of increasing necessity, regarding the growing world-wide burden of diabetes.
The genome-wide burden of rare CNVs was assessed according to either the number of rare CNVs per sample or the average rare CNV size per sample.
Supported by the findings of the genome-wide burden analysis, we sought to identify candidate genes for SUDEP using gene-based association analyses.
A paired t test demonstrated that ASD probands did not have a higher genome-wide burden of ROH compared to parental controls (Supplementary Fig. 3).
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