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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

─

─

─

─

─

─