New updates for CanVar-UK v2.2 (10/02/2023):

New data

• Import of variant data for 23 new genes into CanVar, including key haem-onc susceptibility genes.

Control/case frequency

• Incorporation of population allele counts from UK Biobank exome sequencing cohort.

Functional/splicing datasets

• Import of functional splicing data for variants from Wai et al., Genet Med (2020).

Genetic epidemiology

• Addition of BRCA1/BRCA2 genetic epidemiological variant data from Caputo et al., Am J Hum Genet (2021).

In silico

• Retrieval of bespoke Align-GVGD scores for certain genes.
• Import of BayesDel and CADD v1.6 (CADD-Splice) scores for all CanVar variants.
• Design of tip bubbles for functional and in silico datasets to aid in consideration of evidence strengths.

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CanVar-UK v2.1 (23/03/2022):

Genetic epidemiology

• Addition of genetic epidemiology dataset for SDHB and SDHD by Garrett et al., 2022.

Functional/splicing datasets

• New functional datasets added for Jia et al., Am J Hum Genet (2021), Ikegami et al., Nat Commun (2020), Drost et al., Genet Med (2019) and expansion of the Wessex lab functional splicing data.

Control/case frequency

• Addition of "Frequencies of non-base-substitution small variants" link to "UK diagnostic labs" section for documentation of non-SNVs.

Summary data

• hg38 co-ordinates now shown for all variants.
• BRCA Exchange links now active for relevant variants under "Database Links".

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