Congenital heart defect (CHD) is a rare and complicated disease with a high mortality rate. Its etiology remains unclear and includes many aspects. DNA methylation has been indicated to be involved in

NIAID Data Ecosystem30

HeartENN variant effect predictions for Richter et al. (2020)

先天性心脏病基因组学

遗传变异效应预测

Variant effect predictions used in the publication: Genomic analyses implicate noncoding de novo variants in congenital heart disease All variants are specified in hg19 coordinates

NIAID Data Ecosystem60

Outlier-Based Identification of Copy Number Variations Using Targeted Resequencing in a Small Cohort of Patients with Tetralogy of Fallot

先天性心脏病基因组学

拷贝数变异

Copy number variations (CNVs) are one of the main sources of variability in the human genome. Many CNVs are associated with various diseases including cardiovascular disease. In addition to hybridizat

Figshare2016-01-18 更新30

Targeted resequencing-based CNV calls in TOF patients.

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