9 research outputs found
Additional file 7:Â Table S6. of VarElect: the phenotype-based variation prioritizer of the GeneCards Suite
Vcf file produced from the exome sequencing of the Arthrogryposis Multiplex Congenita clinical case described in the results section. (GZ 1665Â kb
Additional file 2: Table S1. of VarElect: the phenotype-based variation prioritizer of the GeneCards Suite
Gene lists and corresponding phenotypes for Phenolyzer. (XLSX 32.0Â kb
Additional file 6:Â Table S5. of VarElect: the phenotype-based variation prioritizer of the GeneCards Suite
Three vcf files produced from the exome sequencing of a trio belonging to the Apnea, Leigh-Like clinical case described in the results section. (GZ 13334Â kb
Additional file 4:Â Table S3. of VarElect: the phenotype-based variation prioritizer of the GeneCards Suite
Vcf file produced from the exome sequencing of the Congenital Diarrhea clinical case described in the results section. (GZ 14654Â kb
Additional file 3: Table S2. of VarElect: the phenotype-based variation prioritizer of the GeneCards Suite
Gene lists and corresponding phenotypes for Phenomyzer and Exomiser benchmarking. (XLSX 16.0 kb
Additional file 1: Figure S1. of VarElect: the phenotype-based variation prioritizer of the GeneCards Suite
Merging direct and indirect modes. For each tested interlacing factor (x-axis) the red line represents the count of phenotype searches (out of ~300 relevant searches) for which the highest ranking result was direct (left y-axis). The blue line represents the average âinterlacing scoreâ (right y-axis) of all relevant phenotype searches. (PDF 52Â kb