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Once genetic linkage has been identified for a complex disease, the next step is often association analysis, in which single-nucleotide polymorphisms (SNPs) within the linkage region are genotyped and tested for association with the disease.
Co-expressed, functionally enriched trans-eQTL clusters are suggestive of co-ordinated regulation, perhaps by a 'master' transcriptional regulator located within the linkage region [3], [22].
The top 15 NPC genes within the linkage region were chosen from PubMed references (Table S2), and then tag single nucleotide polymorphisms (tag SNPs) within the genes were selected from the HapMap CHB database.
Instead of filtering the data for genes fulfilling all criteria, the genes within the linkage interval can also be prioritised according to their similarity to genes already known to cause epilepsy.
The marker orders within the linkage groups were established using the regression-mapping algorithm.
The build option was used to order markers within the linkage group.
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The extent of LD among SNPs, within and across the linkage groups, was estimated using position of SNPs on the current linkage map.
The linkage within haplotypes is constantly disrupted due to meiotic recombination events.
We used unlinked markers selected from independent linkage groups, or markers so distant as to assort independently if within the same linkage group [ 9].
In both families, significant associations were found for two loci within the same linkage group.
The information derived from this work defines the number and relative position of all potentially forensically relevant Y-STR loci, their location within the physical linkage map of the Y chromosome and their relationship to structural genes.
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