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Update DAB1/SCA37 criTRia curation#360

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hdashnow merged 6 commits into
dashnowlab:mainfrom
elbayaliyev:DAB1_SCA37-critria-update
May 8, 2026
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Update DAB1/SCA37 criTRia curation#360
hdashnow merged 6 commits into
dashnowlab:mainfrom
elbayaliyev:DAB1_SCA37-critria-update

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@elbayaliyev elbayaliyev commented May 7, 2026

Description

Updated the DAB1/SCA37 criTRia curation entry to improve evidence details and citation support. The main change was replacing review-based support for proband and segregation evidence with primary literature from PMID:28686858 and PMID:29939198. The proband evidence score was updated according to the criTRia SOP maximum for Singular Evidence, and the overall genetic/total scores were capped appropriately.

Fixes: #

Major Changes

  • Updated DAB1/SCA37 proband evidence to cite primary sources: PMID:28686858 and PMID:29939198.
  • Updated DAB1/SCA37 segregation evidence to cite primary sources: PMID:28686858 and PMID:29939198.
  • Revised proband evidence score from 3.0 to 6.0 based on multiple unrelated SCA37 families reported across the Portuguese discovery and Spanish replication studies.
  • Updated summary scores to reflect SOP-based scoring caps:
    • Singular Evidence: 3.0 → 6.0
    • Genetic Evidence: 11.5 → 12.0
    • Total score: 17.5 → 18.0
  • Classification remains Definitive.

Minor Changes

  • Added clearer, more evidence-specific details for DAB1/SCA37 proband and segregation rows.
  • Replaced review-based PMID:30284037 support with primary-source citations where appropriate.
  • Updated the root-level Description to summarize the DAB1 ATTTC repeat expansion, familial segregation, repeat-size effects, functional evidence, and model evidence.
  • Added curator-review notes for evidence rows where the cited data may overlap or may not fully support the assigned evidence type.

Checklist

  • All changes are well summarized
  • Check all tests pass
  • Check that the website preview looks good
  • Update the STRchive version in CITATION.cff, format X.Y.Z. If any major changes, increment Y. If only minor changes, increment Z. If breaking change, increment X.
  • Ask someone to review this PR

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@hdashnow hdashnow changed the title Update criTRia-curations.json Update DAB1/SCA37 criTRia curation May 7, 2026
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hdashnow commented May 7, 2026

@elbayaliyev would you give me write access to your fork, so I can push edits? Would save time.

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Found the error in the json format

Comment thread data/criTRia-curations.json Outdated
@hdashnow hdashnow force-pushed the DAB1_SCA37-critria-update branch from 70a64da to 635c9dd Compare May 8, 2026 20:37
@hdashnow hdashnow force-pushed the DAB1_SCA37-critria-update branch from 635c9dd to 13b38d9 Compare May 8, 2026 20:41
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I noticed that this locus should probably be scored as Strong because of the publication time span of 1 year. I also noticed some double-counting of evidence so I adjusted the score down.

@hdashnow hdashnow merged commit 128ae29 into dashnowlab:main May 8, 2026
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@hdashnow hdashnow deleted the DAB1_SCA37-critria-update branch May 8, 2026 21:27
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2 participants