Scoliosis candidate variant and zebrafish reanalysis
收藏资源简介:
The code and data supplement for “Candidate Variant Prioritization and Tissue-Mechanics Endpoints for Functional Validation in Scoliosis: A Computational Reanalysis”. The single archive contains frozen processed observations, all 56 primary-eligible variant annotations, and 138 historical WT/mutant PDB files linked to 60 model–variant records (including three conformers for each of two FBN1 substitutions). It includes complete AlphaMissense annotations, current-version CADD and phyloP scores, ancestry-specific gnomAD counts, source provenance, checksums and offline verification code. Animal-level numerical reanalysis includes Cobb-model diagnostics, hypothetical sample-size planning and 20,000 identity-blocked case-bootstrap samples. The extracted archive passed the complete offline replay and coordinate identity/hash checks. Historical ThermoMPNN/EvoEF inference, atom-level surface calculations and manuscript figure rendering are not rerun; frozen predictions are reaggregated. The analyses do not constitute new human or animal experiments, independent functional validation or estimates of missense-allele effects. Original project code and documentation are MIT licensed. Source-derived measurements, structural coordinates and annotations retain their original attribution and applicable terms; see LICENSE and THIRD_PARTY_NOTICES.md inside the archive. The related GitHub repository is https://github.com/azusakou/scoliosis-variant-and-zebrafish.



