NCBI releases newly designed dbSNP RefSNP Report – Alpha version

NCBI dbSNP is pleased to announce a newly designed Reference SNP (RefSNP, rs) Report webpage to provide enhanced performance and presentation for access to individual RefSNP records. This Alpha version of the report enables browsing of submitted and computed RefSNP … Continue reading

ClinVar Allele-Based Summaries Now Available for FTP Download

ClinVar, NCBI’s archive of submitted associations between alleles in the human genome and diseases or phenotypes, is now producing XML files that aggregate all submitted disease/phenotype information by variant (or set of variants) for public release via FTP bulk download. … Continue reading

NCBI Facilitates Hackathons at the Bio-IT World Conference and Silicon Valley Artificial Intelligence

NCBI usually participates in hackathons as direct organizers and planners. However, NCBI staff recently functioned as facilitators in two hackathons organized by outside groups: one at the Bio-IT World conference, and one at the Silicon Valley Artificial Intelligence (SVAI) incubator. … Continue reading

Questions about GTR, ClinVar, or MedGen? Ask us at ASCO 2017!

NCBI will be exhibiting at the ASCO Annual Meeting 2017 from June 2-6. Exhibit Hall Booth #3046 ASCO attendees can get navigation tips and hands-on help with GTR and ClinVar submissions, take handout materials and meet with Adriana Malheiro, MS* … Continue reading

Dueling BRCA Databases: What About the Patient?

0000-0002-8715-2896 The news release Monday morning grabbed my attention: “Study finds wide gap in quality of BRCA1/2 variant classification between Myriad Genetics and a common public database.” Myriad Genetics had been exclusively providing tests, for $3000+ a

NCBI’s 3 Newest Medical Genetics Resources: GTR, MedGen & ClinVar

NCBI has three relatively new online resources for information about genetic tests, genetic conditions, and genetic variations: The Genetic Testing Registry, or GTR – a registry of genetic tests for heritable and somatic changes in humans MedGen – a medical … Continue reading