Variant Xplorer

The Variant Xplorer is a tool within the Indiana Biobank Research Portal that allows researchers to investigate genetic variants and their distributions across the Indiana Biobank participant population.

https://biobank.sca.iu.edu/variantXplorer

Overview

Variant Xplorer provides an interface for exploring genomic data, allowing you to:

• Search for specific genetic variants by position, gene, or variant ID
• Filter results using variant annotations and predicted functional impacts
• Correlate variants with phenotypic data (Using Cohort Builder)

Using Variant Xplorer

Searching for Variants

You can search for variants using:

• Genomic coordinates (e.g., chr7:140453136)
• Gene symbols (e.g., BRAF)
• rsIDs (e.g., rs113488022)

Filtering Options

Variant Xplorer offers various filtering options to narrow down your search:

• Variant type (SNV, indel, structural variant)
• Allele frequency thresholds
• Predicted impact (high, moderate, low)
• Conservation scores
• Functional annotations

Integration with Cohort Builder

Variant Xplorer is integrated with the Cohort Builder, allowing you to define cohorts based on specific genetic variants.

This integration enables powerful genotype-phenotype analyses and facilitates the discovery of clinically relevant genetic associations.