Mutation@A Glance: an integrative web application for analysing mutations from human genetic diseases.

ABSTRACT: Although mutation analysis serves as a key part in making a definitive diagnosis about a genetic disease, it still remains a time-consuming step to interpret their biological implications through integration of various lines of archived information about genes in question. To expedite this evaluation step of disease-causing genetic variations, here we developed Mutation@A Glance (http://rapid.rcai.riken.jp/mutation/), a highly integrated web-based analysis tool for analysing human disease mutations; it implements a user-friendly graphical interface to visualize about 40,000 known disease-associated mutations and genetic polymorphisms from more than 2600 protein-coding human disease-causing genes. Mutation@A Glance locates already known genetic variation data individually on the nucleotide

SUBMITTER: Hijikata A 

PROVIDER: S-EPMC2885273 | biostudies-literature | 2010 Jun

REPOSITORIES: biostudies-literature