Published on 01 January 2019

MOESM2 of Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders

View Dataset
Chow, Julie;Jensen, Matthew;Hajar Amini;Hormozdiari, Farhad;Penn, Osnat;Sagiv Shifman;Santhosh Girirajan;Fereydoun Hormozdiari

Description

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.

Citations (1)

Mentions (0)

Metrics

Dataset Index

1.5

FAIR Score

48%

Citations

1

Mentions

0

Metrics Over Time

Publication Details

DOI

Publisher

figshare

Assigned Domain

Subfield

Genetics

Field

Biochemistry, Genetics and Molecular Biology

Domain

Life Sciences

Confidence Score

57%

Source

Scholar Data Model

Keywords

BiochemistryMedicineGeneticsFOS: Biological sciencesPhysiology39999 Chemical Sciences not elsewhere classifiedFOS: Chemical sciences69999 Biological Sciences not elsewhere classifiedCancer111714 Mental HealthFOS: Health sciences110309 Infectious DiseasesPlant Biology

Normalization Factors

FT

13.46

CTw

1.00

MTw

1.00