As suggested by the prioritization of ADAMTS17 and MIR17HG, it is possible that some of the newly highlighted genes may also underlie new syndromes of abnormal skeletal growth. As a further proof of principle, the second entry on our list of prioritized genes (Table 3 and Supplementary Table 16), CHSY1, was not a known monogenic gene in the OMIM database12 when we assembled our list, but mutations in this gene have since been shown to cause a syndrome including brachydactyly and short stature17,18. Thus, the novel DEPICT method, applied to the larger GWAS data set, not only identified similar biology to GRAIL and MAGENTA but also implicated a large number of additional genes, gene sets and pathways that that are likely important in skeletal biology and human growth.
