Category Archives: ASHG
Join NCBI at ASHG 2018, October 16-20
Putting your schedule together for ASHG? Don’t forget to look at all of NCBI’s activities, which include 1 GRC Workshop, 1 Booth (#315), 2 Co-Labs, and 10 Poster presentations. We created a handy schedule below, with links to posts where … Continue reading
Posted by in ASHG, What's New
Matched Annotation by NCBI and EMBL-EBI (MANE): a new joint venture to define a set of representative transcripts for human protein-coding genes
The RefSeq project at the NCBI and the Ensembl/GENCODE project at EMBL-EBI have provided independent high-quality human reference gene datasets to biologists since the sequencing of the human genome. Now we’re joining together on an exciting new project we’re calling … Continue reading
Posted by in ASHG, conferences, Gene, RefSeq, What's New
See improvements in NCBI’s genome visualization and analysis tools at ASHG
In 2016, NCBI introduced the Genome Data Viewer (GDV). This past May, the GDV replaced the aging Map Viewer. Over the past year, NCBI has kept you updated about GDV through announcements, webinars, and blogs. Now you can gather information … Continue reading
Posted by in ASHG, Coordinate Remapping Service, GDV, Genome Data Viewer, Genome Decoration, Sequence Viewer, What's New
NCBI at ASHG 2018: Data and Clinical CoLabs introduce interactive graphical displays and medical genetics resources
As you know, NCBI will be attending American Society of Human Genetics (ASHG) 2018 in San Diego. This year, we have two CoLabs – interactive sessions where you can learn about freely available NCBI tools and resources. Read on below … Continue reading
Posted by in ASHG, ClinVar, GDV, Genetic Testing Registry, Genome Data Viewer, GTR, MedGen, Medical Genetic Summaries, Variation, Variation Viewer, What's New
See how dbSNP improves data quality at ASHG 2018
NCBI staff will share knowledge on various topics at the American Society of Human Genetics (ASHG) conference this month in San Diego. Here, on NCBI Insights, we feature some preliminary details for one of NCBI’s dbSNP posters. You can visit … Continue reading
Posted by in ASHG, dbSNP, Variation, What's New
NCBI at ASHG 2018: “Storage and use of dbGaP data in the cloud”
As the American Society of Human Genetics (ASHG) conference is around the corner, the NCBI staff begin to prep for their presentations in San Diego. Here is some background for dbGaP’s poster about their process to improve data storage and … Continue reading
Posted by in ASHG, cloud computing, dbgap, What's New
Going to ASHG? Here’s a sneak peek at our ClinVar poster
This October, some NCBI staff will head out to present at the American Society of Human Genetics (ASHG) conference in sunny San Diego. Below, we give you an inside scoop on the ClinVar poster that we’ll present at ASHG. Want … Continue reading
Posted by in ASHG, ClinVar, What's New
Precision Medicine Initiative – Ricki’s Pick for Breakthrough of the Year
‘Tis the season for Science magazine to name their Breakthrough of the Year, a designation that typically irks me because it implies that science happens suddenly and we all know that of course it doesn’t.A Conversation with CRISPR-Cas9 Inventors Charpentier and Doudna
At the American Society of Human Genetics meeting in October, CRISPR-Cas9 inventors Jennifer Doudna and Emmanuelle Charpentier accepted the Gruber Genetics Prize, then stopped by the press room. For me, this was a little like sitting