BoG2013VariationPoster: Difference between revisions

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==Common Allele Haplotypes==
==Common Allele Haplotypes==
See the [http://hgwdev-demo3.cse.ucsc.edu/cgi-bin/hgTracks?hgS_doOtherUser=submit&hgS_otherUserName=Rhead&hgS_otherUserSessionName=BoG2013VariationPoster development version]. Click on any protein coding gene in the UCSC Genes track and scroll to the "Common Gene Haplotype Alleles" section.


==How to get help==
==How to get help==

Revision as of 01:14, 20 April 2013

This page contains links related to the UCSC Genome Browser poster presented by Brooke Rhead at Biology of Genomes 2013 [1])

Poster: New variation resources at the UCSC Genome Browser

Variant Annotation Integrator

In order to assist researchers in annotating and prioritizing thousands of variant calls from sequencing projects, we are developing the Variant Annotation Integrator (VAI) and anticipate a first public release by the end of June 2013. There are several existing tools that can annotate variant calls with predicted functional effects on protein-coding genes and regulatory regions, for example Ensembl's Variant Effect Predictor (VEP). However, these tools are usually restricted to one or two sources of gene annotations and a limited set of additional annotation sources. The VAI will offer much broader choices from the full UCSC database and user-provided custom tracks.

The first release of the VAI will include a simple user interface for selecting variants to annotate as well as the most commonly used annotation sources: protein-coding genes, regulatory regions, predictions from tools such as SIFT and PolyPhen2 provided by the Database of Non-Synonymous Functional Predictions (dbNSFP), and already-discovered variants from dbSNP. The simple user interface will also provide several options for filtering variants based on annotations. A link to an advanced user interface will enable sophisticated users to add annotation sources from the full database.

Common Allele Haplotypes

See the development version. Click on any protein coding gene in the UCSC Genes track and scroll to the "Common Gene Haplotype Alleles" section.

How to get help

Other posters about the UCSC Genome Browser

  • Using the UCSC Genome Browser to evaluate putative genetic variants. Hinrichs AS et al. Biology of Genomes, 2012. genomewiki page .pptx, PDF
  • Visually integrating genomic data in the UCSC Genome Browser. Hinrichs AS et al. HGV 2011. genomewiki page .pptx, PDF
  • UCSC Genome Browser Data Hubs. Zweig AS et al. Biology of Genomes, 2011. PDF
  • Genome-wide ENCODE Data at UCSC. Rosenbloom KR et al. ASHG, 2010. PPT
  • UCSC Genome Browser Tool Suite. Hinrichs AS et al. Genomics of Common Disease, 2008: .ppt, PDF
  • More Presentations