Table 1

Compartment gene sets are enriched for candidate genes of ocular diseases

Disease-associated genes on array

Disease-associated genes expressed in affected compartment

Percentage of known disease-associated genes identified

Average fold enrichment compared to total number of genes in interval

P-value


Lens

15

8

53

2.4

0.002

Cornea

13

9

69

2.0

0.005

Retina

42

23

55

2.3

0.0004


Arrays were standardized to the same median intensity and genes exhibiting minimum intensities of 2,500 in any compartment were identified. Genetic diseases affecting the lens, cornea, or retina were collated from the RetNet [71] and Online Mendelian Inheritance in Man [72] databases, along with their cytogenetic map positions. The table indicates the number of cloned disease genes on the arrays, the number contained in a given compartment gene set, the percentage of known disease genes included in the signatures, the average fold enrichment compared to the total number of genes in each cytogenetic interval, and the statistical significance of this enrichment (using the hypergeometric distribution).

Diehn et al. Genome Biology 2005 6:R74   doi:10.1186/gb-2005-6-9-r74

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