Experiments

Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).

• A potentially deleterious new CYP2C9 polymorphism identified in an African American patient with major hemorrhage on warfarin therapy.

  PMID 19083245 · PMC2662477 · Blood cells, molecules & diseases · 2009 · 7 claims · 4 setups

  Full-text index only

  A new CYP2C9 coding polymorphism, G1078A (D360N) in exon 7, was identified in an African American patient who experienced major gastrointestinal hemorrhage on warfarin therapy

  african index cyp2c9 study pyrosequencing pcr custom

• Genotype differences in cognitive functioning in Noonan syndrome.

  PMID 19077116 · PMC2760992 · Genes, brain, and behavior · 2009 · 8 claims · 6 setups

  Full-text index only

  Genotype differences account for some of the variation in cognitive ability in Noonan syndrome

  individuals participants parents standardized genetic pure-tone

• Activation instead of blocking mesolimbic dopaminergic reward circuitry is a preferred modality in the long term treatment of reward deficiency syndrome (RDS): a commentary.

  PMID 19014506 · PMC2615745 · Theoretical biology & medical modelling · 2008 · 8 claims · 6 setups

  Full-text index only

  A biphasic treatment approach—acute DA receptor blocking followed by long-term DA release/activation at the NAc—is needed to treat RDS without inducing abnormal mood or craving.

  kidney alcohol-preferring obese rodents receptor dna-directed meta-analysis

• Synergistic effects of the MTHFR C677T polymorphism and hypertension on spatial navigation.

  PMID 19013496 · PMC2685204 · Biological psychology · 2009 · 7 claims · 4 setups

  Full-text index only

  Hypertensive carriers of the MTHFR 677T allele show significantly worse spatial navigation (longer distance to platform) than hypertensive C677C homozygotes

  healthy same buccal virtual blood mthfr

• Managing incidental findings in human subjects research: analysis and recommendations.

  PMID 18547191 · PMC2575242 · The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics · 2008 · 8 claims · 5 setups

  Full-text index only

  Little guidance currently exists on managing research IFs, and no consensus exists on the best approach across genetic/genomic and imaging research domains.

  affected large research consent linkage genomic structural

• Associations between polycyclic aromatic hydrocarbon-related exposures and p53 mutations in breast tumors.

  PMID 20064791 · PMC2854728 · Environmental health perspectives · 2010 · 8 claims · 5 setups

  Full-text index only

  PAH-related exposures are associated with breast cancer differently according to tumor p53 mutation status, type, effect, and number

  archived breast peripheral study surveyor immunohistochemistry competitive

• Selection for genetic variation inducing pro-inflammatory responses under adverse environmental conditions in a Ghanaian population.

  PMID 19907653 · PMC2771352 · PloS one · 2009 · 8 claims · 7 setups

  Full-text index only

  IL10 haplotype 1 (rs1800871, rs1800872, rs3024490, rs1554286) is associated with a pro-inflammatory ex vivo cytokine response (lower IL-10, higher TNF-alpha) relative to the population mean

  population blood genomic hapmap snp survival allele

• Cross-ancestry genome-wide association studies of liver function biomarkers uncover pleiotropic variants, systemic disease links and therapeutic targets.

  PMID 41689074 · PMC13005531 · Genome medicine · 2026 · 8 claims · 8 setups

  Full-text index only

  5,507 lead signals (P<5x10^-9) were identified for seven LFQBs across ancestries, including 210 novel loci

  hope biobank combined cross-ancestry gwas cross-ancestry functional-informed

• AI-guided multi-omics analysis identifies NPC1-modulated susceptibility to SARS-CoV-2 infection under PM(2.5) exposure.

  PMID 41912520 · PMC13194984 · Nature communications · 2026 · 8 claims · 6 setups

  Full-text index only

  A fine-tuned Geneformer (single-cell transcriptomics transformer) model classifies PM2.5 exposure status and generalizes better than BERT models trained from scratch, especially with limited data.

  lung fine-tuned biobank single-cell bulk gene

• Germline sequence variation within the ribosomal DNA is associated with human complex traits.

  PMID 41966685 · PMC13261666 · Cell genomics · 2026 · 8 claims · 5 setups

  Full-text index only

  Germline rDNA sequence variant frequencies associate with multiple human complex traits in the UK Biobank, independently of rDNA copy number

  biobank genomes synthetic 28s whole-genome short-read genome-wide

• Introduction: the challenge of incidental findings.

  PMID 18547190 · PMC2587006 · The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics · 2008 · 8 claims · 5 setups

  Full-text index only

  No consensus exists on how to handle incidental findings in human subjects research

  publicly healthy asymptomatic families empirical functional colonography

• Randomised trial of a decision aid and its timing for women being tested for a BRCA1/2 mutation.

  PMID 14735173 · PMC2410151 · British journal of cancer · 2004 · 6 claims · 3 setups

  Full-text index only

  The DA had no impact on well-being (anxiety, depression, cancer-related distress, general health)

  women brca1 same randomised comparative validated

• Putting science over supposition in the arena of personalized genomics.

  PMID 18665132 · PMC2531214 · Nature genetics · 2008 · 6 claims · 3 setups

  Full-text index only

  There is a rapidly widening gap between gene-disease association discovery and research into the public health/clinical utility of that information.

  adults same tested baseline multiplex telephone-based

• How can developing countries harness biotechnology to improve health?

  PMID 18053180 · PMC2238767 · BMC public health · 2007 · 8 claims · 2 setups

  Full-text index only

  Five Executive Courses on Genomics and Public Health Policy were held in five developing-world regions (Africa, India, Eastern Mediterranean, Latin America/Caribbean, Western Pacific/Southeast Asia) to generate recommendations on harnessing biotechnology for health.

  developing-world course structured participant

• Genome-wide associations of aortic distensibility suggest causality for aortic aneurysms and brain white matter hyperintensities.

  PMID 35922433 · PMC9349177 · Nature communications · 2022 · 8 claims · 7 setups

  Has reproduction

  GWAS identified 102 genome-wide significant loci (including 27 novel) associated with aortic distensibility and area traits

  same biobank arterial cardiac genome-wide multi-trait snp-based

• Tracing human genetic histories and natural selection with precise local ancestry inference.

  PMID 40379651 · PMC12084304 · Nature communications · 2025 · 7 claims · 7 setups

  Has reproduction · 76

  Orchestra, a two-stage LAI method combining a recombination-distance base layer with a deep learning (convolutional + attention) smoothing module, outperforms RFmix, FLARE and Gnomix in precision and recall across simulated admixture generations.

  1kgp-16pops independent simulated 1kgp simulated population-level local

• Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group.

  PMID 11044354 · PMC2408797 · British journal of cancer · 2000 · 6 claims · 4 setups

  Full-text index only

  BRCA1 and BRCA2 mutations are rare in the general population and account for only a small fraction of all breast cancer in the UK

  genomic pedigrees first-degree study pcr pedigree-based age

• Genomics and the prevention and control of common chronic diseases: emerging priorities for public health action.

  PMID 15888216 · PMC1327699 · Preventing chronic disease · 2005 · 8 claims · 6 setups

  Full-text index only

  Family history is the most consistent risk factor for almost all human diseases across the lifespan.

  adults care utah epidemiologic national observational population-based

• Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families.

  PMID 18820594 · PMC2905378 · Pharmacogenetics and genomics · 2008 · 7 claims · 8 setups

  Full-text index only

  The tRNA-Thr G15927A mutation has a potential modifier role that increases penetrance and expressivity of A1555G-associated deafness.

  blood genomic lymphoblastoid same pcr-rflp mitochondrial northern

• The incentive salience of alcohol: translating the effects of genetic variant in CNR1.

  PMID 18606956 · PMC2856651 · Archives of general psychiatry · 2008 · 7 claims · 6 setups

  Full-text index only

  The C allele of rs2023239 is associated with greater CB1 receptor binding in the prefrontal cortex

  postmortem buccal heavy moderate-to-heavy receptor snp functional