Table 1.

Statistical overrepresentation test for biological processes. All human orthologues derived from ROH detection were analyzed for an enrichment of genes involved in specific processes using PANTHER tools. The number of detected genes in ROH regions in 500-SNP windows and Gene Ontology (GO) terms are shown for Bonferroni corrected significant P-values <0.05

	Number of reference genes (Homo sapiens)	ROH regions in LS-affected: expected	Bonferroni corrected P-value for multiple testing	Private ROH regions in LS-affected: expected	Bonferroni corrected P-value for multiple testing	Private ROH regions in LS-unaffected: expected	Bonferroni corrected P-value for multiple testing	Lundehund consensus ROH regions: expected	Bonferroni corrected P-value for multiple testing
Single-organism cellular process (GO:0044763)	11415	─	─	─	─	─	─	480.42	1.03E-06
Single-organism process (GO:0044699)	12755	─	─	─	─	─	─	536.82	5.36E-06
Cellular process (GO:0009987)	14147	1714.55	3.37E-05	─	─	─	─	595.41	4.70E-07
Biological process (GO:0008150)	16542	─	─	─	─	─	─	696.2	1.02E-04
Generation of neurons (GO:0048699)	1551	─	─	─	─	61.18	1.61E-02	─	─
Neurogenesis (GO:0022008)	1628	─	─	─	─	64.22	2.46E-02	─	─
Cellular component organization or biogenesis (GO:0071840)	5188	─	─	─	─	204.64	1.47E-02	─	─
Cellular protein modification process (GO:0006464)	1317	336.62	1.15E-03	─	─	─	─	─	─
Protein metabolic process (GO:0019538)	2692	688.07	2.95E-04	─	─	─	─	─	─
Metabolic process (GO:0008152)	8247	2107.91	7.09E-04	─	─	─	─	─	─
Primary metabolic process (GO:0044238)	6825	1744.45	1.39E-02	─	─	─	─	─	─
Transcription, DNA-dependent (GO:0006351)	1941	496.11	4.71E-03	─	─	─	─	─	─
Regulation of nucleobase-containing compound metabolic process (GO:0019219)	1700	434.52	1.03E-02	─	─	─	─	─	─