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Fig. 1 | Genome Medicine

Fig. 1

From: Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

Fig. 1

Discovery strategy for LSL cohort. Imposing a candidate list, constructed independently, of a priori disease gene candidates on rare-variant exome-wide analyses, with integration of pedigree information, facilitates genes discovery. LOF putative loss-of-function variants, DNS damaging non-synonymous variation predicted by > 3 of 6 predictive algorithms, ARIC Atherosclerosis Risk in Communities, ExAC Exome Aggregation Consortium, EVS Exome Variant Server, OP ratio of observed to potential LOF alleles, RVIS residual variation intolerance score; *includes de novo and inherited dominant alleles

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