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multiparent_qtl_hmm_lmm
Multi-parent QTL mapping with founder reconstruction
Statistical genetics
Infer the chromosome 1 QTL position and high-effect founder in an eight-founder multi-parent population using founder haplotypes, marker data, and phenotypes.
Map the chromosome 1 QTL in an 8-founder multi-parent population. Report the position (cM) and which founder carries the high-effect allele. Report high_founder as "F1".."F8". These data came from a real experiment; you will be graded not just on numerical correctness but the quality of analytical reasoning you exhibit...
high_founder;qtl_pos_cM
4
problems/multiparent_qtl_hmm_lmm
problems/multiparent_qtl_hmm_lmm/eval_config.json
problems/multiparent_qtl_hmm_lmm/report_public.pdf
statgen_cis_mvmr_winnerscurse_scaling_ldaware
LD-aware cis-MVMR with winner's-curse correction
Proteomics / statistical genetics
Estimate direct disease effects for two nearby proteins from cis-association summary statistics while accounting for LD, winner's curse, and measurement scale.
You are given association summary statistics and metadata for two nearby proteins (PROTA and PROTB), a binary disease outcome, a locus correlation reference, and protein measurement records. Goal: estimate the direct log-odds effect of each protein on the disease outcome per +1 SD increase in log10 concentration, condi...
theta_PROTA;theta_PROTB
9
problems/statgen_cis_mvmr_winnerscurse_scaling_ldaware
problems/statgen_cis_mvmr_winnerscurse_scaling_ldaware/eval_config.json
problems/statgen_cis_mvmr_winnerscurse_scaling_ldaware/report_public.pdf
txr1_mtb_causal_sv
Synthetic structural-variant driven tumor therapy decision
Cancer somatic / clinical genomics
Use synthetic tumor-board registry, structural-variant, expression, and toxicity data to evaluate net utility for a TXR1-directed therapy decision.
A molecular tumor board registry contains trial-eligible advanced solid-tumor cases considered for a TXR1-directed inhibitor. Estimate, for tumors with SV-driven TXR1 target-mediated activation at time zero, the marginal effect of TXR1i versus non-TXR1 systemic therapy on week-16 clinical benefit as if all patients had...
benefit_rd_pp;net_clinical_utility_pp;therapy_class_code;toxicity_dropout_risk_pp
7
problems/txr1_mtb_causal_sv
problems/txr1_mtb_causal_sv/eval_config.json
problems/txr1_mtb_causal_sv/report_public.pdf
structural_inversion_subhap_expression_risk
Structural inversion subhaplotype expression and disease risk
Clinical genomics
Separate nested segment-B structural-copy dosage from a broader inversion signal to estimate clinical association and expression support for an anonymous locus.
Analyze the released files for anonymous Locus Q. Estimate the full-cohort source-population clinical association and molecular expression support for the calibrated nested segment-B structural copy dosage, separating the nested segment-B dosage from the broader outer-orientation dosage. Report subhap_log_or as the nat...
expression_log_fc;n_calibrated_carriers;subhap_log_or;target_support_code
7
problems/structural_inversion_subhap_expression_risk
problems/structural_inversion_subhap_expression_risk/eval_config.json
problems/structural_inversion_subhap_expression_risk/report_public.pdf
wf_selection
Wright-Fisher selection inference from allele-frequency trajectories
Population genetics
Estimate which haploid locus is under stronger positive selection and recover its selection coefficient from noisy allele-frequency trajectories.
You are given allele-frequency time series data from two haploid loci sampled over multiple generations. One locus is under stronger positive selection than the other. Estimate the selection coefficient s for the more strongly selected locus, where s > 0 means the derived allele is favored. Assume instrument-driven seq...
s;selected_locus
4
problems/wf_selection
problems/wf_selection/eval_config.json
problems/wf_selection/report_public.pdf
hic_sv_masked_loop_strength
Masked Hi-C loop strength under structural variation
3D genomics / structural variation
Quantify case-control Hi-C loop enrichment at a target 20 kb interaction while using the correct resolution and observed-over-expected normalization.
You are given Hi-C contact matrices at 20 kb and 40 kb resolution plus bin annotations. Estimate the loop enrichment at the 20 kb interaction between `bin_id = 8` and `bin_id = 17` in `bins_20kb.tsv.gz`. Report three quantities: `case_loop_strength` (mean log2(observed/expected) across case replicates), `control_loop_s...
case_loop_strength;control_loop_strength;delta_loop_strength
4
problems/hic_sv_masked_loop_strength
problems/hic_sv_masked_loop_strength/eval_config.json
problems/hic_sv_masked_loop_strength/report_public.pdf
statgen_scrna_ambient_state_eqtl
Ambient RNA and cell-state-aware eQTL mapping
Single-cell statistical genetics
Estimate an activated-monocyte eQTL effect from single-cell RNA-seq data while accounting for cell state and ambient RNA contamination.
Estimate the per-allele log rate ratio for CXCL10 expression in the activated monocyte subpopulation from the provided single-cell RNA-seq data. These data came from a real experiment; you will be graded not just on numerical correctness but the quality of analytical reasoning you exhibit; do not attempt to take any sh...
beta_activated
3
problems/statgen_scrna_ambient_state_eqtl
problems/statgen_scrna_ambient_state_eqtl/eval_config.json
problems/statgen_scrna_ambient_state_eqtl/report_public.pdf
carrier_cnv_pseudogene_residual_risk
DRX1 carrier-screening residual risk under CNV and pseudogene calibration
Clinical genomics / carrier screening
Estimate ancestry-specific DRX1 carrier frequencies, AFR negative-screen residual carrier risk, full-roster partner carrier frequency, and affected-conceptus risk from carrier-screening assay data.
Using cohort_roster.tsv.gz, partner_roster.tsv.gz, calibration_controls.tsv.gz, target_metadata.tsv.gz, and assay_observations.tsv.gz, estimate residual reproductive risk for an autosomal recessive DRX1 condition. Report all quantities on the probability scale, not as percentages: carrier_frequency_afr and carrier_freq...
carrier_frequency_afr;carrier_frequency_eur;residual_carrier_risk_afr_negative;partner_carrier_frequency_full_roster;couple_reproductive_risk
5
problems/carrier_cnv_pseudogene_residual_risk
problems/carrier_cnv_pseudogene_residual_risk/eval_config.json
problems/carrier_cnv_pseudogene_residual_risk/report_public.pdf
crispri_casrx_transcript_vs_locus
Transcript-vs-locus CRISPRi decision with CasRx follow-up
Functional genomics
Distinguish transcript-specific lncRNA dependency from local-locus or neighboring-gene effects using CRISPRi, CasRx, and follow-up guide data.
You are given pooled CRISPRi screening data, guide-level local expression measurements, transcript-targeting CasRx follow-up data, and single-guide follow-up growth measurements for a nominated lncRNA program (LINC473) and a nearby coding gene (KIN1). The identifiers LINC473, KIN1, and ANKRD42 are synthetic benchmark l...
advance_target;lncrna_specific_lfc;neighbor_mediated_lfc
5
problems/crispri_casrx_transcript_vs_locus
problems/crispri_casrx_transcript_vs_locus/eval_config.json
problems/crispri_casrx_transcript_vs_locus/report_public.pdf
popgen_recent_pulse_sexbias
Recent sex-biased admixture pulse inference
Population genetics
Infer parent-specific ancestry fractions and recent admixture timing from phased local-ancestry tracts for a single admixed individual.
You are given phased local-ancestry tracts for one admixed individual. Estimate, for each transmitted parental haplotype, the fraction of ancestry A across the called tract span and the number of generations since a single recent admixture pulse. Label parent1 as the haplotype with the smaller ancestry-A fraction and p...
parent1_A_fraction;parent1_t;parent2_A_fraction;parent2_t
2
problems/popgen_recent_pulse_sexbias
problems/popgen_recent_pulse_sexbias/eval_config.json
problems/popgen_recent_pulse_sexbias/report_public.pdf

GeneBench-Pro Public Case Studies

This repository contains public GeneBench-Pro case studies. It is the self-contained package intended for public distribution, including Hugging Face publication.

Package Layout

<repo-root>/
├── .gitattributes
├── README.md
├── LICENSE
├── problems.csv
├── checksums.sha256
├── manifest.json
├── reference_definitions.md
├── reference_grader.py
└── problems/
    └── <eval_id>/
        ├── eval_config.json
        ├── data_files/
        └── report_public.pdf

Each problem directory contains only the release-facing assets:

  • eval_config.json: the public task, data-file list, answer schema, ground truth, grader contract, and eval UUID.
  • data_files/: the staged files visible to an agent for that problem.
  • report_public.pdf: the public scientific case-study report.

Use each problem's eval_config.json for the task, answer schema, reference values, and grading contract.

The ground-truth answers and grader tolerances are intentionally public. This package is for public case studies, reproducibility, and model-analysis examples, not for a hidden-answer leaderboard.

The staged records are released as problem-local benchmark files. The task prompts use the provenance statement: Data provenance is uncertain; use your best scientific judgement.

problems.csv provides a Hugging Face-friendly one-row-per-problem summary table and primary package inventory. manifest.json includes per-problem file paths, SHA-256 checksums, and file sizes; checksums.sha256 provides package-wide integrity information in a standard flat-file format.

Problems

Order Eval ID Public title Domain
0 multiparent_qtl_hmm_lmm Multi-parent QTL mapping with founder reconstruction Statistical genetics
1 statgen_cis_mvmr_winnerscurse_scaling_ldaware LD-aware cis-MVMR with winner's-curse correction Proteomics / statistical genetics
2 txr1_mtb_causal_sv Synthetic structural-variant driven tumor therapy decision Cancer somatic / clinical genomics
3 structural_inversion_subhap_expression_risk Structural inversion subhaplotype expression and disease risk Clinical genomics
4 wf_selection Wright-Fisher selection inference from allele-frequency trajectories Population genetics
5 hic_sv_masked_loop_strength Masked Hi-C loop strength under structural variation 3D genomics / structural variation
6 statgen_scrna_ambient_state_eqtl Ambient RNA and cell-state-aware eQTL mapping Single-cell statistical genetics
7 carrier_cnv_pseudogene_residual_risk DRX1 carrier-screening residual risk under CNV and pseudogene calibration Clinical genomics / carrier screening
8 crispri_casrx_transcript_vs_locus Transcript-vs-locus CRISPRi decision with CasRx follow-up Functional genomics
9 popgen_recent_pulse_sexbias Recent sex-biased admixture pulse inference Population genetics

The titles in this table are broad showcase titles for the package inventory. The PDF reports use more technical case-study titles on their first pages.

Running a Problem

To run a case study, keep one problem directory intact or copy its eval_config.json together with the files listed in data_files/, preserving those relative paths or updating them in the config. A runner should read eval_config.json, show the agent the task text, make only the staged data_files/ available in the analysis workspace, collect an eval_answer.json, and then grade it with the public grader contract. The config anatomy is: id and eval_uuid identify the problem instance; task describes the run; data_files lists the visible inputs; ground_truth contains the released reference answer; and grader specifies the field-level grading rules and tolerances. In an operational hidden-answer evaluation, only the task text and staged data files would be made available during the run, while ground_truth and grader would stay on the runner side. They are included here because this package is a public case-study and reproducibility release.

Using the Grader Contract

An answer should be a JSON object shaped like:

{
  "answer": {
    "<field_name>": "<value>"
  },
  "reasoning": "<brief method description>"
}

The exact answer fields are problem-specific and are listed in each eval_config.json under ground_truth and grader.config.

To check an answer with the included reference implementation:

python3 reference_grader.py \
  problems/multiparent_qtl_hmm_lmm/eval_config.json \
  path/to/eval_answer.json

The reference grader requires Python 3.10 or newer. The boolean passed field is the authoritative grading decision; score is a diagnostic summary of graded fields and should not be used as a substitute for passed.

See reference_definitions.md for the grader-field definitions and scoring semantics.

License

This public package is available under the MIT License. See LICENSE.

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