Published on 01 January 2019
MOESM2 of Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders
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Additional file 2: Table S2. Summary of analyses performed per module, including determinations of enrichment of de novo mutation, overlap with coding copy number variations. Module membership and frequency of occurrence for all genes selected in any module are displayed in the ‘modules’ tab. Number of cases and controls for ASD, ID, DD, and epilepsy cohorts within denovo-db are displayed in the ‘denovo-db’ tab. Contingency tables for Fisher’s exact test were constructed to assess the enrichment of de novo mutation and copy number variations in modules. Contingency table permutation empirical p-values are displayed in the ‘contingency permutations’ tab. Percent contribution to neurodevelopmental disorder diagnoses and comparison of average number of mutations per individual are displayed in the ‘enrichment (union)’ tab. Tabs corresponding to a module name show the total number of de novo variants, associated phenotype, type of variant, and neurodevelopmental disorder-related descriptions per module.
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Cited on 25 October 2019
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Publication Details
Subfield
Genetics
Field
Biochemistry, Genetics and Molecular Biology
Domain
Life Sciences
Confidence Score
57%
Source
Scholar Data Model