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Table 1 Functional comparison of different software

From: Cruxome: a powerful tool for annotating, interpreting and reporting genetic variants

Software Cruxome Seqmax QIAGEN TGex Seave InterVar
Input file VCF Fastq VCF VCF VCF VCF
Variants SNV, Indel SNV, Indel SNV, Indel SNV SNV, Indel, CNV, SV SNV, Indel
Run mode Automatic Manual Automatic Manual - Automatic
Supports Chinese phenotype search YES YES NO YES NO NO
Phenotypic semantic analysis YES NO NO NO NO NO
Report Variants and clinical interpretation Variants Variants Variants NO NO
Database build YES NO NO NO NO NO