Meta-analysis of de novo mutations (DNMs) in Congenital Heart Diseases (CHD)

Description

We here combined the data from two genetic studies in CHD and re-annotated the dataset using the Variant Effect Predictor (v90) tool. A mutation rate-based testing was done to evaluate the impact of DNM at gene level (MUPIT tool https://github.com/jeremymcrae/mupit). The analysis focused on rare variants with MAF (gnomad) 0.1%.

Datasets

  • Sifrim A., Hitz MP. et al. (2016) article

  • Jin SC. et al. (2017) article