Additional file 5 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 file5: Table S5. High-confidence DNA splicing variants within the CHD (n=48) and cardiomyopathy (n=43) Validation cohorts. All genome-wide high-confidence DNA variants in the CHD and cardiomyopathy Validation cohorts selected by weighted and SMOTE random forest model 4 are shown, along with confirmed variants that were not selected by the model. Variants are annotated by their matching splicing and gene expression outlier statistics obtained from FRASER and OUTRIDER, respectively.
Date made available2024
Publisherfigshare

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