15th December 2017 - v0.2.0 release
CardioClassifier has been updated to version 0.2.0. This update introduces the option to submit a variant by transcript and HGVS cDNA descriptions.
Variants can now be submitted in any of the following acceptable formats:
- A standard VCF file containing one or multiple variants
- As genomic coordinates e.g. 'chr14 23894969 C A het'
- As a transcript and HGVS cDNA description e.g. 'ENST00000355349:c.2221 G>T het'
The 'het' here denotes the zygosity of the variant (het/hom) which if omitted will default to heterozygous.
1st September 2017
Our pre-print manuscript describing the development and validation of CardioClassifier is now online - Whiffin et al. 2017 BioRxiv