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openvax / varcode / 24688627724
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Ran 20 Apr 2026 08:31PM UTC
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SV breakpoints near splice sites attach splice-outcome candidates (closes #341) (#345)

* SV breakpoints near splice sites attach splice-outcome candidates (#341)

When any SV endpoint (variant.start or variant.end) lands in the
canonical splice window on a transcript it overlaps, the SV
annotator now:

1. Synthesizes a SpliceDonor / SpliceAcceptor / IntronicSpliceSite
   effect at that geometry.
2. Feeds it to enumerate_splice_outcomes to get the full candidate
   set (EXON_SKIPPING with a concrete coding effect where derivable,
   INTRON_RETENTION / CRYPTIC_* placeholders otherwise).
3. Re-sources each candidate as source="varcode_splice" with the
   sv_type enriched into evidence, and attaches them to the primary
   SV effect as additional Outcome entries.

NORMAL_SPLICING outcomes are filtered — the primary SV classification
already covers "splicing proceeds normally" for an SV context.

- StructuralVariantEffect gains _splice_candidates storage,
  _attach_splice_outcomes(outcomes), and extends outcomes property
  (primary + cryptic + splice).
- New _breakpoint_splice_window helper in the annotator module
  mirrors the point-variant classifier's distance cutoffs (≤2 donor/
  acceptor; 3-6 donor-side intronic; 3 acceptor-side intronic).
- Checks both variant.start and variant.end; dedups by exon_id so
  two endpoints in the same exon's splice window don't double-attach.
- Tests cover acceptor-side, donor-side, and negative (far-intronic
  DEL with no splice outcomes).

* #345 review fixes

- Delete the unreachable transcript.contig guard (a pyensembl
  Transcript always has a non-empty contig).
- Narrow the bare `except Exception` around synthetic splice-effect
  construction + enumerate_splice_outcomes to
  (AttributeError, KeyError, ValueError) — matches the pattern in
  _enumerate_and_attach_cryptics.
- Drop defensive fallbacks that can't be hit: exon_id is always a
  non-empty string on pyensembl exons, and enumerate_splice_outcomes
  always re... (continued)
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