The identification of genomic loci associated with human genetic
syndromes has been significantly facilitated through the generation of high
density SNP arrays. However, the identification of the specific disease-associated
genes within such loci is still a tedious labor-intensive bottleneck.
Optimal selection of candidate genes from within a defined genomic locus
is a crucial step in the process.
The software is based on two synergistic applications.
For any given syndrome, the software can seek all
syndromes containing similar
phenotypes. Genes associated with these syndromes are presented
for further analysis. The second step which can also be independent is to search
through the entire human genome for other
genes that are associated with selected genes.
A gene list is generated with an order of priority (degree of possible interaction
with the reference gene(s)).
This list can be filtered for specific genomic loci.