Additional file 8 of A validated heart-specific model for splice-disrupting variants in childhood heart disease

  • Robert Lesurf (Creator)
  • Jeroen Breckpot (Creator)
  • Jade Bouwmeester (Creator)
  • Nour Hanafi (Creator)
  • Anjali Jain (Creator)
  • Yijing Liang (Creator)
  • Tanya Papaz (Creator)
  • Jane Lougheed (Creator)
  • Tapas Mondal (Creator)
  • Mahmoud Alsalehi (Creator)
  • Luis Altamirano-Diaz (Creator)
  • Erwin N. Oechslin (Creator)
  • Enrique Audain (Creator)
  • Gregor Dombrowsky (Creator)
  • Alex V. Postma (Creator)
  • Odilia I. Woudstra (Creator)
  • Berto J. Bouma (Creator)
  • Marc Phillip Hitz (Creator)
  • Connie R. Bezzina (Creator)
  • Gillian Blue (Creator)
  • David S Winlaw (Creator)
  • Seema Mital (Creator)

Dataset

Description

Additional file8: Table S8. Gene sets enriched for genome-wide high-confidence splicing variants in CHD genes in the CHD Discovery, Validation, and Extension cohorts (n=1,101). 133 high-confidence splice-disrupting variants in CHD genes were identified in the 1,101 CHD patients - Discovery (n=106), Validation (n=48), and Extension (n=947) cohorts. Variants were tested for enrichment within Human Phenotype Ontology gene sets. Significantly enriched terms (adjusted p < 0.01) are shown.
Date made available2024
Publisherfigshare

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