The OpenHelix Blog

After again reading Daniel MacArthur’s good rundown about the state of databases of human disease-causing variation from last year (One database to hold them all), I thought it might be nice to do a tip comparing several of them. I couldn’t get it under our self-imposed 5 minute limit for our tips (and technical limit [...]

dbSNP is the largest polymorphism database available, including SNPs from many different organisms. dbSNP now has a new search mechanism that allows the researcher to search using HGVS nomenclature for human variation. Not only this, but the feature allows you to annotate the dbSNP rs record that you found, or if you haven’t found one, [...]