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The NCBI web BLAST service has several useful download formats, including tabular formats. All formats allow you to easily save your BLAST results for processing, editing, and annotating.
This video will show you how to use basic Unix tools and EDirect to expand and enhance your tabular saved BLAST results. You will also see learn how to add useful information like taxonomy and sequence titles.
Continue reading “5 new videos on YouTube: Get the most out of BLAST, MedGen, PubChem and more”
Join us next Wednesday, May 2, 2018, 12:00 PM – 12:30 PM EDT for a webinar on MedGen, NCBI’s portal to clinical genetics. We’ll show you how to find information in MedGen on genetic phenotypes, clinical features of disorders, and more. You’ll also learn how to retrieve actionable information such as practice guidelines for a condition and get a list of available genetic tests in GTR, and how to easily access resources like GeneReviews, OMIM and ClinicalTrials.gov, the Genetic and Rare Diseases Information Center, and Medline Plus.
After registering, you will receive a confirmation email with information about attending the webinar. A few days after the live presentation, you can view the recording on the NCBI YouTube channel. You can learn about future webinars on the Webinars and Courses page.
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. The new product, called ClinVarVariationRelease, is currently in beta release and will move to full release in early September 2017.
Continue reading “ClinVar Allele-Based Summaries Now Available for FTP Download”
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* at Booth #3046.
Saturday, June 3 – 9AM–5PM
Sunday, June 4 – 9AM–5PM
Monday, June 5 – 9AM–5PM
*Contact us to schedule a meeting with Adriana Malheiro, MS.
Continue reading “Questions about GTR, ClinVar, or MedGen? Ask us at ASCO 2017!”
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 genetics portal that focuses on information about medical conditions with a genetic component
- ClinVar – an archival database that contains reported assertions about the relationship between genetic variations and phenotypes
This blog will provide a very brief overview of the three resources by outlining some of their content features. For a more thorough introduction to the three resources, including the types of information available in each and how to use them, we recommend viewing this approximately hour-long webinar that we conducted in June 2014.
Continue reading “NCBI’s 3 Newest Medical Genetics Resources: GTR, MedGen & ClinVar”