Richarda Voer and colleagues report a study on novel candidate genes for colorectal cancer (CRC) at an early age in life. They applied a strategy for seraching genes with multiple rare (minor allele frequency <0.001) variants in cases but not in controls with a potentially damaging effect. They identified LRP6 and PTPN12 as novel candidate genes for CRC susceptibility.
Voer, Richarda M. de et al. PLOS Genet.
"I have previously used Alamut Visual in the UK and it is an invaluable resource for variant curation which I was keen to bring into use in my new role in New Zealand. provides a convenient and user-friendly interface which pulls together literature searches, population databases and in silico prediction tools. This enables streamlining of the curation process and saves a lot of time."
Wellington Regional Genetics Laboratory, Wellington, New Zealand