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Fig. 2 | Genome Medicine

Fig. 2

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

Fig. 2

Rare predicted damaging variation in known and novel human cardiovascular malformation (CVM) genes. The x-axis describes counts of CVM cases carrying predicted loss-of-function (LOF) and damaging non-synonymous (DNS) variation with observed population frequency < 0.0005. CVM cases include LSL discovery (n = 342) and clinical cases referred to Baylor Genetics Lab (BG) presenting with cardiac malformations (Additional file 6: Table S5). Known CVM indicates counts of cases with variants in genes previously implicated with human CVM in OMIM; Phenotypic Expansion indicates genes associated with a human disorder not previously associated with CVM; Novel Human CVM genes have not previously been associated with human CVM but were ascertained by our candidate gene strategy (Additional file 3: Table S3)

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Genome Medicine

ISSN: 1756-994X

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