Worked examples

Technical notes

Worked examples from our analysis pipelines. Full method and the reasoning shown. The figures currently published are illustrative examples of the output format.

Sashimi plot of read coverage across an intron, with arcs marking canonical and cryptic splice junctions around an included pseudoexon.

Does this intronic variant create a cryptic splice site?

Junction evidence supports inclusion of a candidate pseudoexon rather than generalized intron retention.

UMAP scatter plot of single cells from a day-60 cortical organoid, coloured by annotated progenitor and neuronal populations.

Which cell populations are present in a day-60 cortical organoid?

The profile resolves progenitor and neuronal populations expected during early cortical development.

Two predicted protein structures side by side; the truncated model lacks the C-terminal domain present in the wild-type model.

Does this truncating variant remove a functional protein domain?

The predicted truncation removes the C-terminal domain while leaving the upstream fold largely intact.