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

BMC Genomics

Table 1 Functional comparison of different software

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

ISSN: 1471-2164