Disease InfoSearch

Disease InfoSearch

Tools and Databases

Cordova: web-based management of genetic variation data 
Ephraim SS, et al. Bioinformatics 2014 Aug

Phen-Gen: combining phenotype and genotype to analyze rare disorders.
Javed A,, et al. Nat Methods. 2014 Aug 3.

Scientists develop genome-wide mutation hunting computational software for genomic medicine, Medical Xpress, Aug 19

Disease InfoSearch Database: locates quality information from a database of more than 13,000 conditions and thousands of support groups and foundations.

NCBI resources on genetic testing: Video webinar: MedGen, GTR, and ClinVar (June, 2014)