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ANNOVAR
ANNOVAR (ANNOtate VARiation) is a bioinformatics software tool for the interpretation and prioritization of single nucleotide variants (SNVs), Insertion (genetics), insertions, Deletion (genetics), deletions, and Copy-number variation, copy number variants (CNVs) of a given genome. It has the ability to annotate human genomes hg18, hg19, hg38, and model organisms genomes such as: mouse (''House mouse, Mus musculus''), zebrafish (''Zebrafish, Danio rerio''), fruit fly (''Drosophila melanogaster)'', roundworm (''Caenorhabditis elegans''), yeast (''Saccharomyces cerevisiae'') and many others. The annotations could be used to determine the functional consequences of the mutations on the genes and organisms, infer cytogenetic bands, report functional importance scores, and/or find variants in conserved regions. ANNOVAR along with SNP effect (SnpEff, SnpEFF) and Ensembl Genomes#Variant Effect Predictor, Variant Effect Predictor (VEP) are three of the most commonly used variant annotation ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Annovar Broad Overview Diagnosis Application
ANNOVAR (ANNOtate VARiation) is a bioinformatics software tool for the interpretation and prioritization of single nucleotide variants (SNVs), Insertion (genetics), insertions, Deletion (genetics), deletions, and Copy-number variation, copy number variants (CNVs) of a given genome. It has the ability to annotate human genomes hg18, hg19, hg38, and model organisms genomes such as: mouse (''House mouse, Mus musculus''), zebrafish (''Zebrafish, Danio rerio''), fruit fly (''Drosophila melanogaster)'', roundworm (''Caenorhabditis elegans''), yeast (''Saccharomyces cerevisiae'') and many others. The annotations could be used to determine the functional consequences of the mutations on the genes and organisms, infer cytogenetic bands, report functional importance scores, and/or find variants in conserved regions. ANNOVAR along with SNP effect (SnpEff, SnpEFF) and Ensembl Genomes#Variant Effect Predictor, Variant Effect Predictor (VEP) are three of the most commonly used variant annotation ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
