Tag: American Society of Human Genetics (ASHG)
NCBI will be attending the American Society of Human Genetics (ASHG) 2019 in Houston Texas on Oct 15-19.
This year, we will be presenting two CoLabs – interactive sessions where you can learn about new NCBI tools and resources. Read on below for a description of each CoLab and join us at ASHG next week!
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 we’ve highlighted events.
Visit us at the booth to provide feedback, have questions answered or just to chat!
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 Matched Annotation from the NCBI and EMBL-EBI or MANE, to provide a matched set of well-supported transcripts for human protein-coding genes and define one representative transcript for each gene. Both RefSeq and Ensembl will continue to provide a rich set of alternate transcripts per gene.
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 and get an overview of all the changes to GDV in person at ASHG!
Check out Poster 1670F “What’s new with NCBI tools for genome visualization and analysis.” on Friday, Oct. 19 from 3 PM to 4 PM
(Exhibit Hall, Ground Level)
Continue reading “See improvements in NCBI’s genome visualization and analysis tools at ASHG”
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 for a description of each CoLab and join us at ASHG in two weeks!
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 poster 1692W “Improving dbSNP Data Quality and Annotation for Variant Interpretation” on Wednesday, Oct. 17 from 3 PM to 4 PM at ASHG.
Continue reading “See how dbSNP improves data quality at ASHG 2018”
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 accessibility.
Visit Poster 1435T “Storage and use of dbGaP data in the cloud” Thursday, October 18 from 2 PM to 3PM. (Exhibit Hall, Ground Floor)
Continue reading “NCBI at ASHG 2018: “Storage and use of dbGaP data in the cloud””
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 to learn more about how you can submit phenotype and functional data? Or access the data?
Have we hooked you yet?
Head to Poster 1492T “Increasing phenotypic and functional evidence in ClinVar” on Thursday, Oct. 18 from 3 PM to 4 PM. (Exhibit Hall, Ground Floor)
Continue reading “Going to ASHG? Here’s a sneak peek at our ClinVar poster”