Structural Variants Browser

We just added a new component to VarSome: The Structural Variant Browser, a new viewer for structural variants (copy-number and other variants over 100bp in size), from a number of new sources:

• DGV [1]
• Exac CNV
• DECIPHER [2]
• as well as from existing ones: ClinVar, gnomAD, dbSNP

We moved the variants over 100bp here to remove the clutter from the original region browser. Move the mouse pointer over the structural variants to see associated data.

Following our recent release of automated variant classification by the ACMGguidelines, a number of you have stepped forward with constructive feedback relating to the interpretation of the guidelines. We are now implementing many of your suggestions, and the updates will be released over the next few days.

Another record month

Finally, VarSome has had another record month in February in every way: queries increased by 22% compared to January and 47% compared to December, the total number of users reached 50.000. We are also seeing a corresponding increase in the number of community contributions. These contributions are particularly valuable, since they can help avoid an unnecessary duplication of effort, and share knowledge in the community.

Thank you so much for making it happen!

Try VarSome NOW!

References

• [1]The Database of Genomic Variants: http://dgv.tcag.ca/dgv/app/home
• [2] DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources. Firth, H.V. et al (2009). Am.J.Hum.Genet 84, 524–533