More than 5 years ago, NCBI brought you OSIRIS (Open Source Independent Review and Interpretation System), a free, open-access tool for powerful and intelligent Short Tandem Repeat (STR) analysis.
Short Tandem Repeats (STRs) are repeated short stretches of DNA and are analyzed by measuring the length of the repeated region. They vary from individual to individual and are passed from parent to child. STR analysis is broadly used in medicine, research and law enforcement – for stem cell transplants, diseases like Huntington’s, verifying research cell lines and samples, determining family relationships, and in criminal cases. In this blog post, we explore how you use OSIRIS in the real world and how your feedback has helped us improve this product. Continue reading “Have you tried OSIRIS, NCBI’s STR analysis tool?” →
Starting this Thursday, November 1st, NCBI staff from projects like ClinVar, GTR, MedGen, Medical Genetics Summaries and OSIRIS will be ready to hear your feedback at the Association for Molecular Pathology (AMP) 2018 Annual Meeting & Expo in San Antonio, Texas. Come to booth #1810 and tell us how to make our resources better for you or ask questions about how to participate and use these resources!
Staff will also present on their current work at AMP 2018. We will present our analyses of current GTR tests and discuss how GTR data aims to reflect the current genetic testing landscape.
Below is a sneak peek on two different presentations to learn about “The NIH Genetic Testing Registry (GTR): Test Methodologies as a Sensor of the Precision Medicine Environment”:
- Poster TT046 – Friday, November 2 from 2:30 – 3:30 PM
- Technical Topics Platform Presentation – Saturday, November 3 from 7:45 – 8:00 AM
Continue reading “Discover GTR at AMP 2018 (Nov 1-3)” →
The 2018 Nucleic Acids Research database issue features several papers from NCBI staff that cover the status and future of databases including CCDS, ClinVar, GenBank and RefSeq. These papers are also available on PubMed. To read an article, click on the PMID number listed below.
Continue reading “5 NCBI articles in 2018 Nucleic Acids Research database issue” →