Table 1. Gene sets used to evaluate the genome-wide haploinsufficiency score and three state-of-the-art approaches.

Gene set	Description	Number of genes
OMIM HI	Online Mendelian Inheritance in Man (OMIM) haploinsufficient genes (as in (6))	55
OMIM HI de novo	OMIM haploinsufficient genes with de novo mutations listed in OMIM (as in (6))	32
CGD AD	Clinical Genomic Database (CGD) autosomal dominant disease genes	550
MGI Lethality	Human genes for which the heterozygous disruption of the one-to-one orthologue in mouse causes lethality (taken from Mouse Genome Informatics (MGI) database; analogous to (6))	88
MGI Seizures	Human genes for which the heterozygous disruption of the one-to-one orthologue in mouse causes seizures (taken from MGI; analogous to (6))	37
SMP Viablity	Genes for which the heterozygous disruption of the one-to-one orthologue in mouse yielded significantly reduced viability by weaning (taken from the Sanger Mouse Resources Portal (SMP))	198
SMP Viability new	SMP Viability genes without MGI phenotype records prior to 10 December 2012	124