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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

From: Variant detection and runs of homozygosity in next generation sequencing data elucidate the genetic background of Lundehund syndrome

  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