Processing multi-nucleotide variants

Unlike single-nucleotide variants (SNVs), a multi-nucleotide variant (MNV) represents a single event involving multiple consecutive bases. In Emedgene, small variants are recognized as those comprising an MNV if they are located within a 2-nucleotide distance.

Limitations

Currently, Emedgene does not fully support MNV functionality. The following features are restricted:

• Export to Curate: Blocked because Curate does not support MNVs.

• AI Shortlist: MNVs are not included in the AI shortlist.

• ACMG Classification: Disabled for MNVs.

From v100.39.0 onward:

Emedgene recognizes MNV as a distinct variant type and supports ingestion from VCF, annotation, and filtering.

Each MNV is represented and annotated as:

• An MNV itself (eg, AG>TC)

• Individual SNVs derived from the MNV (eg, A>T and G>C), for compatibility with existing tools and workflows

Both the MNV and its underlying SNVs display the "Suspected MNP" badge in the Clinical significance tab.

Up to v38.0:

During data processing, MNVs are split into consecutive SNVs. The resulting SNVs are annotated with INFO and FORMAT fields that mirror the original record.

SNVs that comprise an MNV display the "Suspected MNP" badge in the Clinical significance tab.