DECIPHER v11.30 released
DECIPHER v11.30 includes updates to the Gene2Phenotype (G2P) data structure and pathogenicity classifications for variants
Gene2Phenotype (G2P) data update
The display of Gene2Phenotype (G2P) data has been updated to reflect the new data structure of curated Locus-Genotype-Mechanism-Disease-Evidence threads which allow for precise definition of the clinical phenotype and molecular basis of a given condition. G2P data is displayed on gene pages, in gene tables and in the genome browser genes track. Links are provided to the gene/disease record on the G2P website.
Enhanced variant pathogenicity display
The pathogenicity of DECIPHER and ClinVar variants are now displayed in bold on variant and protein variant pages to make it clearer if the variant has been classified as pathogenic or benign.
