[genome-announce] Varaico variants track available for human (hg38 & hg19)

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Jairo Navarro Gonzalez

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May 21, 2025, 7:54:51 PMMay 21
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Hello everyone,

We are happy to announce the release of the Varaico variants track for human assemblies hg38/GRCh38 and hg19/GRCh37. Varaico stands for "Variation Research Advancing Insight in Complex Organisms". Varaico was created using literature mining, similar to AVADA.

Varaico variants are generated by an automated process that extracts purely factual information about genes from scientific papers (by matching strings against gene names) and HGVS variant descriptions (using regular expressions). Varaico aims to reduce false-positive gene and variant mentions and link them together appropriately, but nonetheless, many variants displayed are not mapped to the genomic position intended by the authors. Visit the Varaico website for more details.

Mouse over the variants to show the gene, variant, latest author/year/title, number of publications mentioning the variant, and variant effect. Varaico variants may or may not be disease-causing.

Varaico.png

Mouse-over is shown for the orange item (BRCA1 c.4136_4137del).

We would like to thank Johannes Birgmeier for generating and making the Varaico data available.


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