BoG2013VariationPoster

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

This poster presents a first look at two new Genome Browser features for assessing variation. Both features will be released to the public website in the coming months.

• Files: .pptx, PDF
• Abstract:

Variant Annotation Integrator

See the development version.

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 Gene Haplotype Alleles

See the development version. Click on any protein-coding gene in the UCSC Genes track and scroll to the Common Gene Haplotype Alleles section. (The feature is currently implemented only on GRCh37/hg19 protein-coding genes.)

For each protein-coding gene in the UCSC Genes track, the 2,184 phased chromosomes in the 1000 Genomes Project have been distilled into distinct haplotype alleles.

• By default, only non-synonymous, common (occurring in at least 1% of haploytope alleles) variants are displayed. Including all variants in the display will change the haplotype frequency and homozygous frequency calculations.

• By default, only common (occurring with a frequency of more than 1%) haplotype alleles are displayed.

• Each variant in the summary section is highlighted to the right in red when the full sequence is displayed. Synonymous changes are only evident when DNA bases are displayed.

• All columns are sortable.

• Hovering your mouse over numbers in the "haplotype frequency" and "homozygous frequency" columns will show you the actual count of alleles (e.g., "370 of 2184").

• Hovering your mouse over some buttons displays hints.

• Clicking on variants in the summary section takes you to the corresponding track details pages of the 1000G Ph1 Vars track.

• See the distribution of each haplotype allele among major population groups by clicking the "Display distribution" button. Optionally display the distribution of each allele among the groups defined by the 1000 Genomes Project.

How to get help

• Search for answers in our mail list archives: http://genome.ucsc.edu/contacts.html
• Email a new question to our actively monitored list genome@soe.ucsc.edu
• OpenHelix's free training materials: http://www.openhelix.com/downloads/ucsc/ucsc_home.shtml

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