GENA - The Genome Navigator-Genetic Variant Analysis

Example

Identifying a BRCA1 gene variant as pathogenic based on its alignment with multiple ACMG/AMP criteria.

Scenario

A researcher investigating the genetic basis of familial breast cancer uses GENA to classify a newly discovered variant in the BRCA1 gene. By cross-referencing the variant against databases like ClinVar and HGMD, GENA provides a comprehensive report classifying the variant as pathogenic, supporting its relevance in hereditary breast cancer risk.

Example

Linking a CFTR gene mutation to cystic fibrosis symptoms.

Scenario

A genetic counselor uses GENA to assess the clinical significance of a CFTR mutation found in a patient. GENA evaluates the mutation's impact by analyzing phenotypic data and literature, concluding that the mutation is associated with classic cystic fibrosis symptoms, aiding in the patient's diagnosis and management.

Example

Providing interpretation guidelines for a novel variant in the LDLR gene.

Scenario

Clinical laboratory personnel utilize GENA to interpret a novel LDLR gene variant's potential impact on cholesterol levels. GENA offers interpretation guidance by comparing the variant to known data points and suggesting additional research or functional studies that may clarify its role in hypercholesterolemia.