Table 1.

Sharing genes with loss-of-function mutations in HLHS patients and mice (adapted with permission from Liu et al. [34])

Comparisona		No. shared genes with unique LOF			P valueb	Inference
Group 1	Groups 2	Observed	Expected	Observed/ expected
hHLHS	mHLHS	33	22	1.50	0.013	More sharing than by chance
CEU	mHLHS	28	22	1.27	0.21	Chance sharing
hHLHS		247	69	3.57	9.1 × 10−24	More sharing than by chance
CEU		116	265	0.44	4.5 × 10−16	Less sharing in CEU than expected
hHLHS	CEU	306	453	0.67	4.2 × 10−7	Less sharing in CEU than HLHS

^aComparison includes 68 HLHS (hHLHS) patients, and 95 1000 genomes ethic-matched CEU subjects, and eight independently derived HLHS mutant mice (mHLHS). The HLHS patients had 1278 genes with 1736 unique LOF, while the 1000 genomes CEU subjects had 1372 genes with 1550 unique LOF. Unique LOF are seen in only a single subject in the HLHS or CEU cohort. The eight HLHS mutant mice in total had 329 mutations in 329 genes

^bComparison between groups was performed with χ² goodness of fit tests