Skip to main content
Fig. 6 | Human Genomics

Fig. 6

From: Identification of recurrent variants implicated in disease in bicuspid aortic valve patients through whole-exome sequencing

Fig. 6

The selection process for WES data. It contains 37,225 total coding variants with nonsynonymous mutation. Then filtered 14,826 common variants for GO and KEGG analysis. One thousand and seventy variants implicated in disease are selected via in silico prediction tool analysis, 245 recurrent variants implicated in disease are selected that exist in at least two patients. Forty candidate variants among 36 genes are selected after the literature review that may be associated with phenotype of BAV. Finally, 9 genes were selected for validation in another cohort of 137 BAV patients by sequencing

Back to article page

Human Genomics

ISSN: 1479-7364