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-
- 22 August 2013
- - Three New Human Variation Tracks Released
-
-
- We are pleased to announce the release of three tracks that describe
- human genetic variation. They are based on the
- Leiden Open
- Variation Database (LOVD), the
- Human Gene
- Mutation Database Public (HGMD), and amino acid mutations in the
- UniProt database. The
- majority of the data were collected from publications by curators in the three
- databases.
-
-
- The three databases have varying license restrictions. UniProt provides complete
- information about the mutation amino acid change, the disease and a link to the
- publications that mention it. LOVD provides the mutation and a link to a website
- with disease and publication details. HGMD provides some coordinates and a link to
- its own website which requires registration.
-
-
- These tracks are intended for use primarily by physicians and other professionals
- concerned with genetic disorders, by genetics researchers, and by advanced students
- in science and medicine. While the Genome Browser database is open to the public, users
- seeking information about a personal medical or genetic condition are urged to consult
- with a qualified physician for diagnosis and for answers to personal questions.
-
-
- We'd like to thank all three databases for their help in putting the data together. The
- tracks were produced at UCSC by Maximilian Haeussler and Steve Heitner.
-
-
- 22 July 2013
- - Variant Annotation Integrator
-
-
- In order to assist researchers in annotating and prioritizing thousands
- of variant calls from sequencing projects, we have developed the Variant
- Annotation Integrator (VAI). Given a set of variants uploaded as a
- custom track (in either pgSnp
- or VCF format), the VAI will
- return the predicted functional effect (e.g., synonymous, missense,
- frameshift, intronic) for each variant. The VAI can optionally add
- several other types of relevant information, including: the
- dbSNP
- identifier if the variant is found in dbSNP, protein damage scores for
- missense variants from the Database of Non-synonymous Functional Predictions (dbNSFP),
- and conservation scores computed from multi-species alignments. The VAI
- also offers filters to help narrow down results to the most interesting
- variants.
-
-
- Future releases of the VAI will include more input/upload options,
- output formats, and annotation options, and a way to add information
- from any track in the Genome Browser, including custom tracks.
-
-
- There are two ways to navigate to the VAI: (1) From the "Tools"
- menu, follow the "Variant Annotation Integrator" link. (2)
- After uploading a custom track, hit the "go to variant annotation
- integrator" button. The user's guide is at the bottom of the page,
- under "Using the Variant Annotation Integrator."
-
-
- Thank you to Angie Hinrichs, Bob Kuhn, Brian Raney, Brooke Rhead, and
- Jonathan Casper for their input and work on this feature.
+ 05 September 2013 -
+ New Sheep (oviAri3) Assembly Now Available in the Genome Browser
+
+ We are pleased to announce the release of a Genome Browser for the August 2012
+ assembly of sheep, Ovis aries (ISGC Oar_v3.1, UCSC version
+ oviAri3). The whole genome shotgun assembly was provided by the
+ International Sheep Genomics Consortium.
+ There are 5,698 scaffolds with a total size of 2,619,054,388 bases.
+
+
+ Bulk downloads of the sequence and annotation data are available via the Genome
+ Browser
+ FTP server
+ or the
+ Downloads
+ page. These data have
+ specific conditions for use.
+ The sheep (oviAri3) browser annotation tracks were generated by UCSC and
+ collaborators worldwide. See the
+ Credits page for a detailed
+ list of the organizations and individuals who contributed to this release.
-
-
-
- 2 July 2013
- - Assembly Data Hubs: Assembly Data Hubs extend the
- functionality of Track Data Hubs to assemblies that are not hosted
- natively on the Browser.
- Read more.
-
-
-
- 2 July 2013
- - New Gene Alleles feature on the details pages of UCSC genes:
- For each protein-coding gene in the UCSC Genes track, variant data from
- the 2,184 (per autosome) phased chromosomes from Phase 1 of the 1000
- Genomes Project have been distilled into "gene haplotype
- alleles."
- Read more.
-
+
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