A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data [Original Articles]

Conclusions:
The pathogenesis of CHD could be explained using our high-confidence CHD gene list for variant filtering in a subset of cases. Furthermore, our unbiased screening procedure of family exomes implicates additional genes and variants in the pathogenesis of CHD, which suggest themselves for functional validation. This 2-tiered approach provides a means of (1) identifying clinically actionable variants and (2) identifying additional disease-causal genes, both of which are essential for improving the molecular diagnosis of CHD.

Source: Circulation: Cardiovascular Genetics - March 19, 2018 Category: Cardiology Authors: Szot, J. O., Cuny, H., Blue, G. M., Humphreys, D. T., Ip, E., Harrison, K., Sholler, G. F., Giannoulatou, E., Leo, P., Duncan, E. L., Sparrow, D. B., Ho, J. W. K., Graham, R. M., Pachter, N., Chapman, G., Winlaw, D. S., Dunwoodie, S. L. Tags: Developmental Biology, Genetics, Congenital Heart Disease Original Articles Source Type: research