Resilience Project The Resilience Project aims at finding individuals with rare genetic mutations that the medical text books would indicate should have caused catastrophic illness but somehow these individuals are “resilient” – they have been protected via yet to be discovered genetic or environmental factors. We are offering tools and screening panels to search your own sequencing or genotyping data set for potential candidates. Read more about The Resilience Project >>
ClinLabGeneticist assist clinical geneticists to diagnose variants identified from whole exome (WES) data. This tool helps clinical geneticist to 1) diagnose each pathogenic variants by automatically collect diagnosis information from multiple data sources such as OMIM variants, HGMD genes, ClinVar, PubMed, 1K genomes, ESP6500, dbNSFP, UK10K, UCSC; 2) distribute variants assignments to multiple reviewers having different backgrounds to make decision of each pathogenic variants for each cases; 3) manage all clinical variants data multiple uses. More information about this tool is HERE
RVS. The Reference Variant Store holds information on more than 470 million genetic variants using various methods of annotation. Sources for variants in RVS are re-sequencing projects such as the 1000 Genomes, ESP6500, UK10K, TCGA, Scripps Wellderly; clinical annotation databases such as ClinVar and HGMD; and hypothetical, amino-acid changing single-point mutations from dbNSFP. We provide annotations on low level effects, phenotypes and diseases, population frequencies, and predictive functional impact scores. More information about RVS is HERE.
DIVAS. The Disease Variant Store provides information of genetic variants in various disease population. Users can quickly obtaining frequencies, functional annotation, and known disease annotations by performing simple queries. More information about DIVAS is HERE.