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+ + ++ We are happy to announce the release of the enGenome VarChat track for the + hg38/GRCh38 + and hg19/GRCh37 human assemblies, + available in the Variants in Papers superTrack. + VarChat is an open platform that + leverages the power of generative artificial intelligence to support the genomic variant + interpretation process by searching the available scientific literature for each variant and + condensing it into a brief yet informative text. +
+ ++ The track shows how many papers the variant was observed in, its gene, its HGVS nomenclature, and + dbSNP rsID. Variants are color-coded based on the level of literature support, as shown in the + table below:
+| Color | +Level of literature support | +
|---|---|
| + | High: at least 25 papers mention the variant | +
| + | Medium: between 10 and 24 papers mention the variant | +
| + | Low: fewer than 10 papers mention the variant | +
+ We would like to thank VarChat for providing the data to UCSC. We would also like to thank Lou + Nassar, Max Haeussler, and Gerardo Perez for their efforts on this release.
+ + ++We are pleased to announce the addition of AlphaMissense tracks to the hg38 and +hg19 reference genomes. AlphaMissense scores predict the pathogenicity of +missense variants for all possible single amino acid substitutions in the human +proteome. +
+ ++To access these tracks on the Genome Browser, please visit their description +pages below and change the tracks' visibility: +
+ ++To learn more about the AlphaMissense dataset, please see the +publication by Cheng et al. Science. 2023. +
+We are excited to announce the release of the CIViC track for hg19/GRCh37 and hg38/GRCh38. The Clinical Interpretation of Variants in Cancer (CIViC) is an online database of clinically relevant variant interpretations from expert- and crowd-sourced peer-reviewed literature, clinical trials, and some conference abstracts. The details page for a feature will list diseases and therapies that have been associated with a genomic variant. Visiting the CIViC page for a variant will allow browsing the Molecular Profiles associated with that variant, and in turn each Molecular Profile shows the Clinical Evidence and Assertions for various diseases and therapies.