Candidate gene identification using BioMart. (A) The Arrhythmogenic right ventricular dysplasia (ARVD) gene was mapped to 14q24. BioMart identifies 172 genes in this region, which may be narrowed down to 67 with expression in the heart. (B) This may be further refined to the two candidate genes, ZFP36L1 and TGFB3, by looking for genes involved in organ morphogenesis, according to GO, as this condition is known to result in widespread structural abnormalities. The latter gene is now known to be the one involved in this disorder. (C) BioMart may also be used to extract SNPs for the identified genes including their location in the gene, whether they are upstream, downstream, intronic or coding and for the latter whether they result in an amino acid substitution.
Smedley et al. BMC Genomics 2009 10:22 doi:10.1186/1471-2164-10-22