Welcome to the IVA-ACCI tool for whole genome variant analysis. This interactive tool allows finding genes affected by deleterious variants that segregate along family pedigrees, case-controls or sporadic samples.
IVA web application makes an intensive use of the HTML5 standard and other cutting-edge web technologies such as Web Components, so only modern web browsers are fully supported, these include Chrome 49+, Firefox 45+, Microsoft Edge 14+, Safari 10+ and Opera 36+.
Sample ID | Father | Mother | Phenotypes | Deceased | Parental Consanguinity | Sex |
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{{sample.name}} ({{sample.attributes.individual.name}}) |
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{{disease.id}}
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{{sample.member.sex}} |
Cohort | Reference | Alternate | MAF (allele) | Allele Frequencies | Genotype Frequencies | |||
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Reference | Alternate | 0/0 | 0/1 | 1/1 | ||||
{{cohort.name}} | {{cohort.value.refAllele}} | {{cohort.value.altAllele}} | {{cohort.value.maf}} ({{cohort.value.mafAllele}}) | {{cohort.value.refAlleleFreq}} | {{cohort.value.altAlleleFreq}} | {{cohort.value.genotypesFreq.homref}} | {{cohort.value.genotypesFreq.het}} | {{cohort.value.genotypesFreq.homalt}} |
Host | Response |
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{{item}} |
Accession | Clinical Significance | Traits | Gene Names | Review Status |
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{{item.accession}} | {{item.clinicalSignificance}} |
{{trait}} |
{{geneName}} |
{{item.reviewStatus}} |
Mutation Id | Primary Site | Site Subtype | Primary Histology | Histology Subtype | Sample Source | Tumour Origin | Gene Name | Mutation Somatic Status |
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{{item.mutationId}} | {{item.primarySite}} | {{item.siteSubtype}} | {{item.primaryHistology}} | {{item.histologySubtype}} | {{item.sampleSource}} | {{item.tumourOrigin}} | {{item.geneName}} | {{item.mutationSomaticStatus}} |
{{getValueVariableSet(variable.name)}} |
Variant | SNP Id | Genes | Type | Consequence Type |
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Several prioritization and interpretation algorithms are available, you can choose an interactive tool:
Name | {{geneObj.name}} ({{geneObj.id}}) |
Biotype | {{geneObj.biotype}} |
Description | {{geneObj.description}} |
Location | {{geneObj.chromosome}}:{{geneObj.start}}-{{geneObj.end}} ({{geneObj.strand}}) |
Genome Browser | {{geneObj.chromosome}}:{{geneObj.start}}-{{geneObj.end}} |
Name | Ensembl ID | Biotype | Location | Coding | Flags |
---|---|---|---|---|---|
{{transcript.name}} | {{transcript.id}} | {{transcript.biotype}} | {{transcript.chromosome}}:{{transcript.start}}-{{transcript.end}} | {{transcript.genomicCodingStart}}-{{transcript.genomicCodingEnd}} | {{transcript.annotationFlags}} |
Name | {{transcriptObj.name}} ({{transcriptObj.id}}) |
Biotype | {{transcriptObj.biotype}} |
Location | {{transcriptObj.chromosome}}:{{transcriptObj.start}}-{{transcriptObj.end}} ({{transcriptObj.strand}}) |
Gene | {{gene}} |
Genome Browser | {{transcriptObj.chromosome}}:{{transcriptObj.start}}-{{transcriptObj.end}} |
Project | Study | Date | Files | Samples | ||||
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{{summaries.name}} | ||||||||
{{item.name}} | {{item.creationDate}} | {{item.files}} | {{item.samples}} |
Study | Date | Files | Samples |
---|---|---|---|
{{item.name}} | {{item.creationDate}} | {{item.files}} | {{item.samples}} |