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 we’ve highlighted events.

Booth #315, Exhibit Hall:

  • Wednesday, October 17, 10:00 AM – 4:30 PM
  • Thursday, October 18, 10:00 AM – 4:30 PM
  • Friday, October 19, 10:00 AM – 4:30 PM

Visit us at the booth to provide feedback, have questions answered or just to chat!

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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 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.

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See improvements in NCBI’s genome visualization and analysis tools at ASHG


GDV_homepage

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)

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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 for a description of each CoLab and join us at ASHG in two weeks!

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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 poster 1692W “Improving dbSNP Data Quality and Annotation for Variant Interpretation” on Wednesday, Oct. 17 from 3 PM to 4 PM at ASHG.

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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 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)

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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 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)

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