Software

Data

Homsy et al, Science, 2015: de novo mutations from 1120 congenital heart disease cases

All supplementary tables (a zip file):

  1. S1: Phenotypes for each case proband, including cardiac, neurodevelopmental disorders and extra-cardiac congenital anomalies.
  2. S2: List of de novo Mutations in CHD case cohort.
  3. S3: List of de novo Mutations in Control cohort.
  4. S4: List of de novo probabilities for each variant class in each protein-coding gene on the Nimblegen V2 exome, adjusted for depth in Cases.
  5. S5: List of de novo probabilities for each variant class in each protein-coding gene on the Nimblegen V2 exome, adjusted for depth in Controls.
  6. S6: Functional term enrichment analysis of all Genes with Damaging (loss of function + deleterious missense) de novo mutations in all cases.
  7. S7: Functional term enrichment analysis of all Genes with Loss of Function de novo mutations in 860 new cases.
  8. S8: List of 1,563 variants (1,161 unique genes) with damaging de novo mutations from 7 independent NDD cohorts.
  9. S9: Functional term enrichment analysis among 69 genes with Damaging de novo mutations overlapping between CHD cases and the published NDD (P-NDD) cohort.
  10. S10: Percentile ranks of genes by expression in the developing mouse heart and brain.

GWAS of drug adverse reactions

GWAS data sets from Serious Adverse Event Consortium, related to these papers (Daly et al 2009; Shen et al 2011; Lucena et al 2011; Overby et al 2014) can be found at SAEC Data Portal (Registration required). Processed files ready for PLINK are available upon request (yshen@c2b2.columbia.edu).

Detecting CNVs from exome sequencing

Exome sequencing and genotyping data used in CANOES (Backenroth et al 2014) is from NHLBI Pediatric Cardiac Genomics Consortium (PCGC) and available through dbGaP