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.
"Alamut is the best tool I have used for the annotation of DNA variants. It has a great user interface, combines data from multiple sources and allows for ease of variant interpretation by clinical geneticists."
JORDAN LERNER-ELLIS, Ph.D.
Mt. Sinai Hospital, Toronto