Table 2 Burden analysis of homozygosity for five cohorts

From: Homozygosity analysis in amyotrophic lateral sclerosis

Test

Case

Control

P-value*

Number of segments

4330

9390

 

RATE

2.147

1.357

1E−05

PROP

0.7144

0.6646

2E−05

TOTKB

12580

6962

1E−05

AVGKB

3524

3029

1E−05

GRATE

61.91

34.41

1E−05

GPROP

0.703

0.6525

3E−05

  1. RATE: Number of segments per individual.
  2. PROP: Proportion of sample with one or more defined segments.
  3. TOTKB: Mean total kb length spanned by homozygosity segments per individual.
  4. AVGKB: Average segment size.
  5. GRATE: Number of RefSeg gene regions spanned by homozygous segments.
  6. GPROP: Number of homozygosity segments segments with at least one RefSeg gene covered.
  7. *P-value with 100 000 case–control status swap permutation.
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