Data and file access

All raw data, scripts, structures, reports, and figures are openly available at OSF (https://osf.io/ed7sp/) with persistent DOI https://doi.org/10.17605/OSF.IO/ED7SP.

Final reports (markdown + PDF):

• PUBLICATION_GRADE_REPORT.md — exhaust=16/32 confirmation
• H1_VALIDATION_FINAL.md — pocket #1 vs pocket #19 discrimination
• POCKET19_CRITICAL_INTERPRETATION.md — random control caveat
• POCKET1_PHARMACOPHORE.md — initial pharmacophore analysis
• PHARMACOPHORE_FINAL.md — pharmacophore after stress test
• POCKET_19_FINAL_REPORT.pdf + .md — pocket #19 detailed analysis
• MD_VALIDATION_REPORT.md — OpenMM MD framework
• WETLAB_COST_ESTIMATE.pdf — cost comparison analysis
• PACS1_PREPRINT_DRAFT.pdf — preprint draft

Raw data CSVs:

• FINAL_top50.csv — top 50 initial screen
• aed_pocket1.csv — 19 AEDs at pocket #1
• aed_pocket19.csv — 19 AEDs at pocket #19
• aed_pocket7.csv — 19 AEDs at pocket #7
• random_pocket1.csv — 7 random controls at pocket #1
• random_pocket19.csv — 7 random controls at pocket #19
• RANDOM_CONTROL_COMPARISON.csv — direct comparison
• pharmacophore_pocket1.csv — 11 chemically-related compounds
• extended_pocket1.csv — 25 additional analogues
• top30_robust_e8.csv — extended top-30 robust expansion
• top20_pocket19.csv — top 50 retest at pocket #19
• pocket19_others_FINAL.csv — multi-ligand pocket #19 test
• pocket1_pub_grade.csv — exhaust=16/32 publication-grade
• pocket1_residues.json and pocket19_residues.json — pocket residue identities

Structures:

• PACS1_genomic_GRCh38.fasta — genomic sequence
• PACS1_mRNA_NM_018026.4.fasta — mRNA reference
• receptor_R203W_FBR.pdbqt — docking receptor R203W
• PACS1_R203W_md.pdb — MD-equilibrated structure
• CHEMBL16.pdbqt — phenytoin 3D
• (Clonazepam, oxazepam in prepared_clean/)

AlphaFold 3 inputs (rerunnable):

• AF3_input_WT.json — WT + furin
• AF3_input_R203W.json — R203W + furin
• AF3_input_WT_phospho.json — WT + furin phosphorylated
• AF3_input_R203W_phospho.json — R203W + furin phosphorylated
• AF3_round2_jobs.json — BICD2 + dimers (4 jobs)

Documents for clinicians:

• Note_PACS1_Pr_Genevieve_v2.pdf — scientific note
• Email_Pr_Genevieve_v2.md — proposed email text
• Lettre_a_Julien_PACS1.docx — family letter

Bessonnat F. (2026). PACS1 Syndrome — Virtual Drug Screening and Pharmacophore Discovery for the recurrent p.Arg203Trp mutation. OSF. https://doi.org/10.17605/OSF.IO/ED7SP

All content is shared openly. Anticipated licensing: Creative Commons Attribution (CC-BY-4.0) for documents, MIT or equivalent for scripts. Final license selection in progress.