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).

• The role of positive selection in determining the molecular cause of species differences in disease.

  PMID 18837980 · PMC2576240 · BMC evolutionary biology · 2008 · 8 claims · 6 setups

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  Genes predicted to be under positive selection during human evolution are implicated in diseases (epithelial cancers, schizophrenia, autoimmune diseases, Alzheimer's disease) that differ in prevalence and symptomatology between humans and other mammals

  orthologous omim meta-database panther comparative disease protein-protein

• Next-generation sequencing.

  PMID 20030863 · PMC2797692 · Breast cancer research : BCR · 2009 · 8 claims · 7 setups

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  Massively parallel sequencing can simultaneously capture base-pair mutations, copy number aberrations and somatic rearrangements of a cancer genome in a single experiment

  individuals metastatic acute oestrogen whole-exome whole-genome large-scale

• Single-immunocyte transcriptomics reveal the role of natural killer cell-dependent exogenous antigen presentation in ankylosing spondylitis severity.

  PMID 41593306 · PMC12868835 · Experimental & molecular medicine · 2026 · 8 claims · 8 setups

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  Innate antibacterial defense functions are generally enhanced in most cell types at AS onset and are negatively associated with AS severity

  pbmcs gwas pbmc-derived cd4+ single-cell bulk mendelian

• Comprehensive analysis of the causal risk factor from hypertension associated with prognosis and therapeutic response in renal cell carcinoma by multi-omics analysis and validation.

  PMID 41680825 · PMC12998095 · Biology direct · 2026 · 8 claims · 8 setups

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  A 48-gene cross-species hypertension (HTN) gene module identified from human and SHR rat scRNA-seq can classify ccRCC patients into two molecular subgroups with distinct survival and targeted therapy response

  aortic spontaneously tcga icgc single-cell bulk summary-data-based

• Multi-ancestry GWAS of age-related hearing loss identifies 140 loci and key cellular mechanisms.

  PMID 41723152 · PMC13172361 · Nature communications · 2026 · 8 claims · 8 setups

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  A multi-ancestry GWAS meta-analysis of 456,613 cases and 1,053,834 controls identifies 140 independent loci associated with ARHL, including 44 novel signals.

  multi-ancestry gwas finngen biobank gwas score sbayess

• Context-specific regulatory genetic variation in MTOR dampens neutrophil-T cell crosstalk in pneumonia-associated sepsis.

  PMID 41741465 · PMC13057173 · Nature communications · 2026 · 8 claims · 7 setups

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  The MTOR eQTL variant rs4845987 has context-specific, opposite effects on MTOR expression: decreasing it in activated T cells and increasing it in neutrophils.

  blood bulk eqtl sepsis bulk cell-type colocalisation

• Constitutional genetic variation at the human aromatase gene (Cyp19) and breast cancer risk.

  PMID 10027313 · PMC2362434 · British journal of cancer · 1999 · 7 claims · 5 setups

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  Allelic distribution of the Cyp19 intron 4 STRP differs significantly between breast cancer cases and controls

  peripheral ceph individuals cases strp genotyping fluorescent

• Evaluation of models to predict BRCA germline mutations.

  PMID 17016486 · PMC2360540 · British journal of cancer · 2006 · 7 claims · 7 setups

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  Four commonly used BRCA risk prediction models (BRCAPRO, Manchester, Penn, Myriad-Frank) have only modest ability to rule in or rule out BRCA1/2 germline mutation carrier status at a 10% probability threshold.

  proband pedigrees randomly brca1 brcapro manchester

• Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish.

  PMID 16515697 · PMC1448207 · BMC medical genetics · 2006 · 8 claims · 7 setups

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  CMS compares IBS allele/genotype sharing between distantly related (beyond grandparental) affected and unaffected individuals from founder populations to detect disease loci while reducing confounding from population stratification and genetic heterogeneity.

  amish unrelated same overall microsatellite combinatorial permutation

• Bias of selection on human copy-number variants.

  PMID 16482228 · PMC1366494 · PLoS genetics · 2006 · 8 claims · 8 setups

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  Human CNVs are significantly overrepresented near telomeres and centromeres and enriched in simple tandem repeats relative to the genome as a whole

  genome human-mouse cnv-encompassed inbred comparative randomization molecular

• Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies.

  PMID 17953491 · PMC2039766 · PLoS genetics · 2007 · 8 claims · 5 setups

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  CNVs are not easily tagged by SNPs and often fall in genomic regions poorly covered by whole-genome SNP arrays or not genotyped by HapMap, so current GWASs have largely missed their contribution to complex disorders.

  genome-wide genome cohorts array-based snp bac

• Genes at human chromosome 5q31.1 regulate delayed-type hypersensitivity responses associated with Leishmania chagasi infection.

  PMID 17713557 · PMC2435172 · Genes and immunity · 2007 · 7 claims · 8 setups

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  SNPs in LECT2 and TGFBI show independent associations with the DTH+ phenotype, indicating two separate genes in this region control DTH+

  blood family unrelated subjects snp family-based linkage

• Ordered subsets linkage analysis of antisocial behavior in substance use disorder among participants in the Collaborative Study on the Genetics of Alcoholism.

  PMID 18496835 · PMC4248599 · American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2008 · 8 claims · 5 setups

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  Prior to OSA, modest evidence for linkage to SUD was found on chromosomes 8 and 17.

  extended coga genome-wide ordered genotyping

• Construction of a high-resolution genetic linkage map and comparative genome analysis for the reef-building coral Acropora millepora.

  PMID 19900279 · PMC3091320 · Genome biology · 2009 · 8 claims · 6 setups

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  This is the first genetic linkage map constructed for any coral species or any non-Bilaterian animal

  acropora millepora coral snp genetic segregation

• A comprehensive resequence analysis of the KLK15-KLK3-KLK2 locus on chromosome 19q13.33.

  PMID 19823874 · PMC2793378 · Human genetics · 2010 · 7 claims · 7 setups

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  Deep resequencing of a 56 kb region on chr19q13.33 identified 555 polymorphic loci, including 116 novel SNPs and 182 novel indels.

  individuals sequence resequencing snps targeted sequence genotype

• Search for genomic alterations in monozygotic twins discordant for cleft lip and/or palate.

  PMID 19803774 · PMC2893889 · Twin research and human genetics : the official journal of the International Society for Twin Studies · 2009 · 7 claims · 5 setups

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  Postzygotic genomic alterations are not a common cause of monozygotic twin discordance for isolated cleft lip and/or palate.

  peripheral array custom snp

• Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations.

  PMID 19715579 · PMC2741446 · BMC medical genetics · 2009 · 8 claims · 6 setups

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  Three loci (2q24, 11q23.1-25, 13q14.11-21.33) were identified by both the microsatellite and SNP genome-wide scans

  talana volunteers same ogliastra genome-wide clinical genotype

• 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

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  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

• Comprehensive analysis for the role of macrophage-driven genes in abdominal aortic aneurysm.

  PMID 41815567 · PMC12973086 · Cardiovascular diagnosis and therapy · 2026 · 8 claims · 8 setups

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  SMU1 is identified as a novel macrophage-related gene associated with AAA development, serving as a potential diagnostic biomarker and therapeutic target

  aaa macrophage-related merged gwas single-cell bulk rt-qpcr

• Genetic evidence supporting obesity as a risk factor for lung squamous cell carcinoma and the identification of MFAP1 as a shared genetic target.

  PMID 41820721 · PMC13096280 · Discover oncology · 2026 · 8 claims · 8 setups

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  BMI and LUSC show a significant positive genome-wide genetic correlation, robust to constrained-intercept sensitivity analysis and replicated by GNOVA.

  gwas gtex scrna-seq ldsc gnova ρ-hess