[genome-announce] AVADA variants track available for human (hg38)
Jairo Navarro Gonzalez
We are happy to announce the release of the AVADA variants track for human (GRCh38/hg38). AVADA is a database of variants built by machine learning software that analyzes full text research articles to find genes and variants that appear relevant for monogenic genetic diagnosis.
The Avada Variants track shows the genomic positions of variants in the AVADA database. Genomic locations of variants are labeled with the variant description in the original text. This is not a normalized HGVS string but the original text, as the authors of the study described it. The Pubmed ID, gene, and transcript for each variant are shown on the variant's details page, as well as the PubMed title, authors, and abstract.
Mouse-over the variants to show the gene, variant, first author, year, and title.
This data has been lifted from hg19 to hg38. Additional information can be found on the AVADA publication. We want to thank Gill Bejerano and Johannes Birgmeier for making the AVADA data available.
Jairo Navarro
UCSC Genome Browser
UC Santa Cruz Genomics Institute
Revealing life’s code.
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