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OpenAI

30. junij 2026

Znotraj Genebench-Pro

Podrobnejši pogled na primerjalno merilo, njegova vprašanja in podporna gradiva.

Študije primerov

Teh 10 študij primerov prikazuje reprezentativna vprašanja iz GeneBench-Pro. Vsaka študija primera vključuje izvirni poziv, nabore podatkov in podporna gradiva. Za pregled primerjalnega preizkusa in ključnih ugotovitev glejte napovedno objavo.

Opomba: Predogledi datotek prikazujejo izseke iz celotnih naborov podatkov.


Študija primera 1

Somatska onkologija: odločitev o razmerju med koristmi in tveganji zdravljenja tumorja na podlagi strukturnih variant

Ocenite, ali ima sintetični zaviralec, usmerjen proti TXR1, pozitivno klinično uporabnost pri tumorjih, katerih aktivacijo cilja poganja strukturna varianta. TXR1, TXR1i, DLR1 in oznake alelov z zvezdico so sintetične oznake za primerjalno vrednotenje. 

Ciljno podskupino je treba pridobiti iz dokazov na podlagi dolgih odčitkov, ekspresije, kakovosti tumorja in farmakogenomike, preden je mogoče korist in toksičnost interpretirati kot odločitev o zdravljenju.

Objavljen poziv, ki je prikazan modelu

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 an assessable week-16 visit. Also estimate the 8-week treatment-limiting toxicity/discontinuation risk under TXR1i in the same target population. Report net clinical utility = benefit risk difference (percentage points) - 0.35 * toxicity risk (percentage points), and choose therapy_class_code 1 if TXR1i has positive net utility and 0 otherwise. 

Use percentage-point units for all non-code quantities. Positive benefit means TXR1i improves week-16 clinical benefit relative to non-TXR1 systemic therapy.

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 shortcuts.

Return your final answer as exactly one JSON object.
Do not wrap the JSON in markdown.
Do not add prose before or after the JSON.
Do not omit any keys shown in the example.
Return the JSON object in your final answer:

JSON

1
{
2
"answer": {
3
"therapy_class_code": <int>,
4
"benefit_rd_pp": <float>,
5
"toxicity_dropout_risk_pp": <float>,
6
"net_clinical_utility_pp": <float>
7
},
8
"reasoning": "<description of method and QC>"
9
}

Datoteke, posredovane modelu

id_pacientanabor_analizestarostspolmestokoledarsko_obdobjeecogtumorsko_bremepredhodne_linijepredhodna_rezistencarazred_linijerazred_terapijeocenjeno16korist16prekinitev_zaradi_toksicnosti_8teddan_nicelnega_casa
MTB0001173.8MS1P220.78731ATXR1i010
MTB0002155.2MS3P112.63701ATXR1i1000
MTB0003168.8FS4P200.89121ATXR1i1110
MTB0004182.8FS2P224.10100BTXR1i1000
MTB0005165.5FS1P317.011ATXR1i1000

Kovariate iz registra, terapija, ocena v 16. tednu, korist in zgodnja toksičnost.


Študija primera 2

Funkcionalna genomika: validacija tarče CRISPR: transkript lncRNA ali genomski lokus?

Ugotovite, ali je navidezna odvisnost od lncRNA specifična za transkript ali pa jo povzročajo učinki bližnjega lokusa in sosednjih genov.

Dokazi, usmerjeni s transkripti, morajo prestati kontrole za lokalne motnje DNK lokusa, represijo sosednjih genov, zamenjave vodičev, toksičnost GC in učinke plošče.

Objavljen poziv, ki je prikazan modelu

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 labels; any resemblance to real human genes is coincidental.

Estimate the requested quantities.

Definitions:

  • lncrna_specific_lfc: the pooled-screen matched-control day-10 log2 growth effect expected at 100% effective knockdown of the dominant LINC473 transcript, not local DNA-locus effects.
  • neighbor_mediated_lfc: the pooled-screen matched-control day-10 log2 growth effect expected at 100% KIN1 repression in the local LINC473-locus model after accounting for concomitant LINC473 transcript knockdown.
  • advance_target: 1 if the evidence supports advancing LINC473 as a transcript-directed target, else 0.

Conventions:

  • all growth effects are log2(day10/day0) competitive-growth effects relative to matched controls;
  • more negative numbers indicate stronger loss of fitness;
  • set advance_target to 1 only if lncrna_specific_lfc <= -0.08 and neighbor_mediated_lfc > -0.25; otherwise 0.

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 shortcuts.

Return your final answer as exactly one JSON object.
Do not wrap the JSON in markdown.
Do not add prose before or after the JSON.
Do not omit any keys shown in the example.
Return the JSON object in your final answer:

JSON

1
{
2
"answer": {
3
"advance_target": <int>,
4
"lncrna_specific_lfc": <float>,
5
"neighbor_mediated_lfc": <float>
6
},
7
"reasoning": "<description of method and QC>"
8
}

Datoteke, posredovane modelu

guide_idnominal_targetchrcoordstranddist_lnc_tss_bpdist_neighbor_tss_bpguide_gc_frac
g001LINC473chr7100014+14300.624
g002LINC473chr7100035-43670.584
g003LINC473chr7100051+116560.622
g004LINC473chr7100066-59660.617
g005LINC473chr7100088+74770.715

Vodniki za koordinate, cilje, razdalje in funkcije GC


Študija primera 3

Statistična genetika: prednostno razvrščanje proteinskih tarč zdravil v povezanem genetskem lokusu

Ocenite neposredne učinke dveh bližnjih proteinov na bolezen z uporabo cis multivariabilne Mendelove randomizacije (cis-MVMR), pri čemer upoštevate merilno lestvico testa, orientacijo alelov, prekletstvo zmagovalca, LD in preostalo lokalno pleiotropijo.

Dve beljakovini imata koreliran lokus. Analiza mora preiti od marginalnih povezav k pogojnim učinkom bolezni, ki upoštevajo LD, na skupni proteinski lestvici.

Objavljen poziv, ki je prikazan modelu

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, conditional on the other protein.

Interpretation: theta_PROTA and theta_PROTB use the same log-odds per-SD scale defined in the goal.

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 shortcuts.

Return your final answer as exactly one JSON object.
Do not wrap the JSON in markdown.
Do not add prose before or after the JSON.
Do not omit any keys shown in the example.
Return the JSON object in your final answer:

JSON

1
{
2
"answer": {
3
"theta_PROTA": <float>,
4
"theta_PROTB": <float>
5
},
6
"reasoning": "<description of method and QC>"
7
}

Datoteke, posredovane modelu

snppos_bpeffect_alleleother_allelemafbetasepval
rs20000050000000AC0.422150.0064386683107068080.0032673300912034120.04876727714241972
rs20000150010126AC0.057090.0110089933375813010.0069552392087504070.11345916603941006
rs20000250020253GT0.090210.0099220147571163190.0056330230270155180.07817048492026045
rs20000350030379GT0.483990.0105692156141645730.00322914197402374450.0010638520681901973
rs20000450040506AG0.377030.0070365513782386540.00332975923212698020.034580976884336506

Povzetki povezav proteinov v presejalni fazi za PROTA.


Študija primera 4

Klinična genomika / presejanje nosilstva: preostalo tveganje pri presejanju nosilstva za DRX1 ob kalibraciji CNV in psevdogenov

Ocenite pogostnosti prenašalcev, specifične glede na poreklo, preostalo tveganje po negativnem presejalnem testu, pogostnost prenašalstva pri partnerju in tveganje za prizadeti konceptus na podlagi podatkov analiz presejanja prenašalstva.

Ocena preostalega tveganja je odvisna od določitev prenašalstva, ki upoštevajo psevdogene, strnitve ustanoviteljskih haplotipov, umerjanja testa, specifičnega za poreklo, in standardizacije od testiranih partnerjev nazaj na celoten seznam partnerjev.

Objavljen poziv, ki je prikazan modelu

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_frequency_eur among screening-roster adults; residual_carrier_risk_afr_negative for an AFR screening-roster adult with a negative DRX1 screen; partner_carrier_frequency_full_roster for a uniformly sampled partner_roster.tsv.gz row; and couple_reproductive_risk for an affected conceptus when the index person is AFR and screen-negative and the partner is drawn from partner_roster.tsv.gz. Assume autosomal recessive inheritance with a 1/4 affected-conceptus risk conditional on both biological parents being carriers. 

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 shortcuts.

Return your final answer as exactly one JSON object.
Do not wrap the JSON in markdown.
Do not add prose before or after the JSON.
Do not omit any keys shown in the example.
Return the JSON object in your final answer:

JSON

1
{
2
"answer": {
3
"carrier_frequency_afr": <float>,
4
"carrier_frequency_eur": <float>,
5
"residual_carrier_risk_afr_negative": <float>,
6
"partner_carrier_frequency_full_roster": <float>,
7
"couple_reproductive_risk": <float>
8
},
9
"reasoning": "<description of method and QC>"
10
}

Datoteke, posredovane modelu

sample_idcollectionancestryfamily_history_tier
S_EUR_0001screeningEUR0
S_EUR_0002screeningEUR0
S_EUR_0003screeningEUR0
S_EUR_0004screeningEUR0
S_EUR_0005screeningEUR1

Odrasli s seznama za presejanje z informacijami o poreklu in kontekstu presejanja.


Študija primera 5

Enocelična genomika: eQTL aktiviranih monocitov po korekciji za ambientno RNA

Ocenite učinek genotipa na izražanje v aktiviranih monocitih po odstranitvi okoljske RNA in tehnične kontaminacije iz podatkov enoceličnega RNA-seq.

Okoljska RNA vpliva tako na izražanje tarče kot na panel označevalcev, uporabljen za določanje stanja aktivacije, zato je treba korekcijo izvesti pred modelom eQTL.

Objavljen poziv, ki je prikazan modelu

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 shortcuts.

Return your final answer as exactly one JSON object.
Do not wrap the JSON in markdown.
Do not add prose before or after the JSON.
Do not omit any keys shown in the example.
Return the JSON object in your final answer:

JSON

1
{
2
"answer": {
3
"beta_activated": <float>
4
},
5
"reasoning": "<description of method and QC>"
6
}

Datoteke, posredovane modelu

cell_iddonortotal_umiHBBIFI6ISG15LST1CXCL10
D01_C001D011113734835
D01_C002D01110363311210
D01_C003D0111419812639
D01_C004D01125076043217
D01_C005D0110459125115

Število UMI na celico za marker gene, označevalce kontaminacije in ciljni gen.


Študija primera 6

Strukturna genetika: vgnezdena strukturna varianta: podpora izražanja in klinična povezava

Ocenite, ali ima ugnezdeni strukturni subhaplotip znotraj anonimnega, inverziji podobnega lokusa kalibrirano klinično povezanost in verodostojno podporo izražanja.

Ugnezden signal doze kopij je lahko zamešan s širšo orientacijo inverzije, zato morata kalibracija doze, podpora izražanju in klinično modeliranje ostati ločena.

Objavljen poziv, ki je prikazan modelu

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 natural-log source-population total-effect odds ratio for case status per additional calibrated segment-B copy. Report expression_log_fc as the natural-log expression fold-change per calibrated segment-B copy for the expression-supported gene. Report target_support_code as 1 if the supported gene has a positive expression_log_fc and the clinical association is protective (subhap_log_or < 0), otherwise 0. Report n_calibrated_carriers as the number of reliable breakpoint-panel samples carrying at least one segment-B copy. 

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 shortcuts.

Return your final answer as exactly one JSON object.
Do not wrap the JSON in markdown.
Do not add prose before or after the JSON.
Do not omit any keys shown in the example.
Return the JSON object in your final answer:

JSON

1
{
2
"answer": {
3
"n_calibrated_carriers": <int>,
4
"target_support_code": <int>,
5
"expression_log_fc": <float>,
6
"subhap_log_or": <float>
7
},
8
"reasoning": "<description of method and QC>"
9
}

Datoteke, posredovane modelu

sample_idcaseageage_bandsexpc1pc2pc3ancestry_groupclinic_stratumrecruitment_stream
Q00012150.4550_640-1.01514-0.21032-0.08849EURtertiaryclinic
Q00028057.3950_640-1.25987-0.124980.2344EURregionalniregister
Q00029168.465_plus00.915980.621770.01891AFRterciarnaklinika
Q00030174.0765_plus10.21125-0.59634-0.08197EASskupnostregister
Q00032182.8265_plus0-1.12034-0.243720.14665EURskupnostklinika

Klinični podatki in podatki o kovariatah za celotno kohorto.


Študija primera 7

Regulatorna genomika: merjenje jakosti kromatinskih zank po maskiranju strukturnih variant in artefaktov mapiranja

Kvantificirajte fokalno razliko v moči zanke Hi-C med primerom in kontrolo po odstranitvi artefaktov nizke mapirljivosti in strukturnih variant iz ozadja pričakovanih stikov.

Ciljna zanka je definirana pri ločljivosti 20 kb, vendar je model pričakovanih stikov popačen, če najprej ne zamaskiramo stikov z nizko preslikljivostjo in SV traku, ki velja samo za primere.

Objavljen poziv, ki je prikazan modelu

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_strength` (mean log2(observed/expected) across control replicates), and `delta_loop_strength` (case minus control).

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 shortcuts.

Return your final answer as exactly one JSON object.
Do not wrap the JSON in markdown.
Do not add prose before or after the JSON.
Do not omit any keys shown in the example.
Return the JSON object in your final answer:

JSON

1
{
2
"answer": {
3
"case_loop_strength": <float>,
4
"control_loop_strength": <float>,
5
"delta_loop_strength": <float>
6
},
7
"reasoning": "<description of method and QC>"
8
}

Datoteke, posredovane modelu

bin_idchromstartendgc_contentmappabilityre_sites
0chr84000004200000.461990338215725940.97875742147042735
1chr84200004400000.50441242085346770.89010849434983975
2chr84400004600000.432184515849381940.90568792893267123
3chr84600004800000.47331972826812180.93765298406647893
4chr84800005000000.44449560621507480.86825655179818774

Anotacije segmentov ciljne ločljivosti


Študija primera 8

Statistična genetika: večstarševsko kartiranje QTL z rekonstrukcijo ustanoviteljev

Kartirajte lokus kvantitativne lastnosti na kromosomu 1 v rekombinantni populaciji z osmimi ustanovitelji tako, da pred preskušanjem povezanosti s fenotipom rekonstruirate poreklo ustanoviteljev.

Vidni podatki o označevalcih so dvoallelni, vendar je biološki signal poreklo ustanoviteljev. Zato mora utemeljena analiza rekonstruirati ustanoviteljsko stanje, preveriti usmerjenost označevalcev in ločiti QTL od motečega vrha, poravnanega s serijo.

Objavljen poziv, ki je prikazan modelu

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; do not attempt to take any shortcuts.

Return your final answer as exactly one JSON object.
Do not wrap the JSON in markdown.
Do not add prose before or after the JSON.
Do not omit any keys shown in the example.
Return the JSON object in your final answer:

JSON

1
{
2
"answer": {
3
"high_founder": "<string>",
4
"qtl_pos_cM": <float>
5
},
6
"reasoning": "<description of method and QC>"
7
}

Data files:

  • markers.tsv.gz: marker metadata
  • founders.tsv.gz: founder alleles at each marker
  • ril_genotypes.npz: observed RIL genotypes (biallelic)
  • phenotypes.tsv.gz: phenotype and covariates

Datoteke, posredovane modelu

marker_idchrpos_cM
m2_065259.762431265596575
m2_103294.52656615104739
m2_107298.18761427503033
m2_079272.20130244108847
m1_054149.907510212292195

Identifikatorji markerjev, kromosomi in položaji na genetskem zemljevidu.


Študija primera 9

Populacijska genetika: starševsko specifično poreklo in časovna opredelitev nedavnega genetskega mešanja

Določite deleže starševskega porekla in čas nedavnega mešanja iz faziranih odsekov lokalnega porekla po odpravi recipročnih artefaktov in kromosomsko specifične inverzije oznak.

Deleži porekla in časi pulzov se spremenijo, če se artefakti recipročnih odsekov, kromosomsko lokalna inverzija oznak ali imenovalci zemljevidov obravnavajo nepravilno.

Objavljen poziv, ki je prikazan modelu

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 parent2 as the haplotype with the larger ancestry-A fraction. 

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 shortcuts.

Return your final answer as exactly one JSON object.
Do not wrap the JSON in markdown.
Do not add prose before or after the JSON.
Do not omit any keys shown in the example.
Return the JSON object in your final answer:

JSON

1
{
2
"answer": {
3
"parent1_A_fraction": <float>,
4
"parent1_t": <float>,
5
"parent2_A_fraction": <float>,
6
"parent2_t": <float>
7
},
8
"reasoning": "<description of method and QC>"
9
}

Datoteke, posredovane modelu

chromhapstart_morganend_morganancposteriorlow_complexity_frac
chr1h10.030.505A0.9850.08
chr1h10.5050.535B0.620.92
chr1h10.5351.478849A0.9850.08
chr1h11.5037271.852681B0.9850.08
chr1h11.8526812.422373A0.9850.08

Fazirani odseki lokalnega porekla s koordinatami, oznakami porekla, posteriorne vrednosti in opombami kontrole kakovosti.


Študija primera 10

Populacijska genetika: Ocenjevanje selekcije iz zašumljenih časovnih vrst starodavne DNK

Ugotovite, kateri od dveh haploidnih lokusov je pod močnejšo pozitivno selekcijo na podlagi starodavnih časovnih vrst frekvenc alelov, ob upoštevanju orientacije alelov, smerne napake, genetskega zdrsa in spreminjajoče se velikosti populacije.

Šumne starodavne trajektorije niso neposredno primerljive, dokler oba lokusa nista postavljena na isto lestvico izpeljanega alela in dokler se podane vrednosti napak sekvenciranja na ravni vzorca ne modelirajo neposredno.

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 sequencing error is ~1%. The seq_error column is the average of the two directional allele-miscall rates for that locus and sample.

The selected_locus value must be "A" or "B".

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 shortcuts.

Return your final answer as exactly one JSON object.
Do not wrap the JSON in markdown.
Do not add prose before or after the JSON.
Do not omit any keys shown in the example.
Return the JSON object in your final answer:

JSON

1
{
2
"answer": {
3
"selected_locus": "<string>",
4
"s": <float>
5
},
6
"reasoning": "<description of method and QC>"
7
}

Datoteke, posredovane modelu

generacijaalternativna_branjaskupna_branjanapaka_sekvenciranjaleto_vzorca
636400.16-4500
1234450.16-4278
1841550.16-4056
2438700.16-3833
3036900.16-3611

Časovna serija števila odčitkov za lokus A.