Repository navigation
Compose mixed inherited and somatic haplotypes (10.11.1) - #567
Merged
Merged
Conversation
This file contains hidden or bidirectional Unicode text that may be interpreted or compiled differently than what appears below. To review, open the file in an editor that reveals hidden Unicode characters.
Learn more about bidirectional Unicode characters
Sign up for free
to join this conversation on GitHub.
Already have an account?
Sign in to comment
Add this suggestion to a batch that can be applied as a single commit.This suggestion is invalid because no changes were made to the code.Suggestions cannot be applied while the pull request is closed.Suggestions cannot be applied while viewing a subset of changes.Only one suggestion per line can be applied in a batch.Add this suggestion to a batch that can be applied as a single commit.Applying suggestions on deleted lines is not supported.You must change the existing code in this line in order to create a valid suggestion.Outdated suggestions cannot be applied.This suggestion has been applied or marked resolved.Suggestions cannot be applied from pending reviews.Suggestions cannot be applied on multi-line comments.Suggestions cannot be applied while the pull request is queued to merge.Suggestion cannot be applied right now. Please check back later.
Mixed cis groups containing an allele already in
GermlineContextpreviously returnedUnresolved. They now compare novel edits against the patient baseline, retaining inherited alleles once. The #500 reproduction returnsp.S159Trather than attempting to apply the inherited allele twice.Normalize and deduplicate alleles once, then use the existing phase graph and layout pipeline for every edit type. Known-cis group members anchor phase before resolver answers; other germline alleles retain their uncertainty, and homozygous alleles do not bridge haplotypes. Results retain the original group membership, the first novel allele as the primary variant, and per-hypothesis phase/source/novel-edit evidence. All-inherited groups report allele overlap without inferring LOH.
Regression coverage includes inherited and novel SNVs/insertions/deletions, repeated and normalized-equivalent alleles, both input orders, reverse strand, cis/trans/unknown phase, phase propagation and limits, and the public collection/haplotype APIs. The scientific baseline follows Hundal et al.; direct haplotype inputs continue to assert cis, while collections require resolver support to form a group.
Validation:
./lint.shpassed.TEST_SH_MAX=4 ./test.sh: 3,152 passed, 34 warnings.mkdocs build --strictpassed.Substitution p.S159Tcandidate, inherited allele cis.Version: 10.11.1. Fixes #500. Published to PyPI from clean main; wheel/sdist SHA256 hashes match the local build, and an isolated install passes the original reproduction (
p.S159T).Release-process discrepancy encountered during inspection is already tracked in #414: the current
deploy.shdoes not implement the bump/guards/tags described in AGENTS.md. The version bump is included here; deployment ran from a verified clean main after CI and merge, following RELEASING.md.