Variant analysis

Search, filter, and analyze genetic variants with AI-powered tools.

Nexus provides multiple ways to explore variant data — from natural language questions in the chat to detailed filters in the variant table.

Searching variants

With a case selected, ask Nexus to search for variants using any combination of criteria:

Show me pathogenic or likely pathogenic variants in BRCA1 with allele frequency below 0.01

Available filters

You can filter variants by:

Filter	Description	Example
Gene	One or more gene symbols	BRCA1, TP53, EGFR
Pathogenicity	Clinical classification	Pathogenic, likely pathogenic, VUS
Zygosity	Variant genotype	Homozygous, heterozygous
Consequence	Predicted effect	Missense, nonsense, frameshift, splice
Allele frequency	Population frequency threshold	Below 1%, below 0.1%

You don’t need to remember filter names. Describe what you’re looking for in plain language, and Nexus applies the right filters.

Variant analytics

Beyond searching, you can ask Nexus to aggregate and analyze variant data:

• “How many pathogenic variants does this patient have?”
• “What’s the distribution of variant consequences?”
• “Show me the top 10 genes by variant count”

Nexus returns statistics and can generate charts to visualize the results.

Using the variant table

The variant table in the case view gives you a hands-on way to explore variants:

• Filters panel — toggle filters on the left to narrow results
• Column sorting — click column headers to sort
• Resizable columns — drag column edges to adjust width
• Batch selection — select multiple variants for group actions

Combining panels with variant search

For targeted analysis, apply a gene panel to restrict your search:

Use the hereditary cancer panel to filter this patient's variants and show only pathogenic ones.

This combines the panel’s gene list with your pathogenicity filter to show only the most relevant results.

Marking findings

When you identify a variant of interest, you can mark it as a finding. Findings are saved to the case and can include your clinical notes and interpretation.