Submission ID: 1


Sample identifier = anemia
File_name=anemia.vcf
File_format=vcf4
Reference_genome=hg19
Disease_model=rare recessive disease
Processed variants=30726
phenotype is hemolytic anemia

Basic Information

exome summary results view CSV file TXT file
genome summary results view CSV file TXT file

ANNOVAR filtering results:

(click to view details about this pipeline)
Initially, 30726 variants were fed into the annotation pipeline and 0 variants were detected as invalid input.

Step1:8015 variants Identify missense, nonsense and splicing variantsdownload
Step2:586 variants Remove variants in the 1000 Genomes Project(ALL) with MAF>0.01download
Step3:331 variants Remove variants in gnomAD exome database with MAF>0.01download
Step4:20 genes Compile a list of candidate genes based on diseaes model download
variants_info
download all filtering results

Phenotype/disease Prioritization Result:

Exonic variant list from the wANNOVAR output after filtration, the last filter step with variants left will be used. (Total: 20)Variant List
Gene list from the wANNOVAR output, input into Phenolyzer (Total: 20)Input Gene List
The prioritized genes from Phenolyzer (Total: 15)Result Gene List
The network visualization Show

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