id stringclasses 10
values | title stringclasses 10
values | domain stringclasses 9
values | summary stringclasses 10
values | question stringclasses 10
values | answer_fields stringclasses 10
values | data_file_count int64 2 9 | problem_dir stringclasses 10
values | eval_config stringclasses 10
values | report_public_pdf stringclasses 10
values |
|---|---|---|---|---|---|---|---|---|---|
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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