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).

• Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families.

  PMID 18803811 · PMC2556318 · BMC medical genetics · 2008 · 8 claims · 7 setups

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  CDKN2A germline mutations were found in 7 of 25 (28.0%) Slovenian melanoma families

  genomic relative p16ink4a pcr pearson student's

• Variation in breast cancer risk in BRCA1 and BRCA2 mutation carriers.

  PMID 18710587 · PMC2575529 · Breast cancer research : BCR · 2008 · 8 claims · 4 setups

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  Lifetime breast cancer risk estimates in BRCA1/2 mutation carriers vary widely (roughly 40% to >80%) depending on the study population and ascertainment method

  women first-degree brca2 families population-based standardized combined

• Proteomics in animal models of Alzheimer's and Parkinson's diseases.

  PMID 18703168 · PMC2630427 · Ageing research reviews · 2009 · 8 claims · 6 setups

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  Proteomics studies in APPSw transgenic mice reveal differential expression of proteins involved in metabolism, ubiquitin/proteasome system, cellular transport, synaptic/axonal integrity, and inflammation

  app swedish p301l gskβ page proteomics redox

• Antibody protein array analysis of the tear film cytokines.

  PMID 18677223 · PMC3786218 · Optometry and vision science : official publication of the American Academy of Optometry · 2008 · 7 claims · 4 setups

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  Tear fluid contains factors with affinity for plastic, capture antibodies, and IgG that create matrix effects profoundly impacting dot ELISA/array reliability

  tear normalized antibody 12-plex two-step

• A common haplotype within the PON1 promoter region is associated with sporadic ALS.

  PMID 18618303 · PMC2739087 · Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases · 2008 · 7 claims · 6 setups

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  Two SNPs (rs987539 in PON2 intron 6 and rs2074351 upstream of PON1 exon 2) within the paraoxonase gene cluster are significantly associated with susceptibility to sporadic ALS

  genomic case-control sporadic serum snp allelic sliding-window

• Natural selection of protein structural and functional properties: a single nucleotide polymorphism perspective.

  PMID 18397526 · PMC2643940 · Genome biology · 2008 · 8 claims · 8 setups

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  The SNP A/S ratio is a robust measure of selective constraint, correlating with interspecies Ka/Ks ratios and with protein sequence conservation.

  sequence genes proteins sequences snp interspecies sequence

• Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma.

  PMID 18334962 · PMC2268858 · Molecular vision · 2008 · 8 claims · 4 setups

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  Two MYOC sequence variants were identified in Japanese POAG patients: a novel non-synonymous variant p.Gln297His and a previously reported variant p.Ala363Thr.

  genomic myoc poag pcr amino clinical

• Association of DRD4 uVNTR and TP53 codon 72 polymorphisms with schizophrenia: a case-control study.

  PMID 20040103 · PMC2808306 · BMC medical genetics · 2009 · 6 claims · 5 setups

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  Long form DRD4 uVNTR alleles (≥5 repeats) are associated with increased risk of schizophrenia

  blood-derived case-control pcr-rflp direct pcr-based

• A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.

  PMID 20039262 · PMC4439312 · Annals of neurology · 2009 · 8 claims · 8 setups

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  A homozygous NEFL nonsense mutation (E210X) causes a severe, early-onset recessive axonal neuropathy in four siblings of a consanguineous family

  family sural nefl-null sw-13 clinical genetic immunohistochemistry

• 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

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  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

• Next-generation sequencing in aging research: emerging applications, problems, pitfalls and possible solutions.

  PMID 19900591 · PMC2878865 · Ageing research reviews · 2010 · 8 claims · 8 setups

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  NGS platforms offer superior performance, specificity, and cost-effectiveness compared to traditional Sanger sequencing

  genome alzheimer's embryonic tissues genome genotyping rna-seq

• Expression of ultralong complementarity determining region 3 and development of IgM and IgG B cell receptor repertoires in Holstein heifer calves.

  PMID 41588676 · PMC12857222 · ImmunoHorizons · 2026 · 7 claims · 6 setups

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  The percentage of productive IgM sequences with ultralong CDR3 significantly increases between day 90 and ~day 285 of life

  igm+ igg+ bovine sorted long-read magnetic-activated rt-pcr

• Accurate detection of somatic single-nucleotide variants from bulk RNA-seq data using RNA-MosaicHunter.

  PMID 41505106 · PMC12781890 · Nucleic acids research · 2026 · 6 claims · 8 setups

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  RNA-MosaicHunter accurately detects sSNVs from bulk RNA-seq with high precision (94.7% in TCGA, 99.3% in cell-line mixture) in default mode

  tcga cell-line same gtex bulk whole-exome whole-genome

• The systematic assessment of completeness of public metadata accompanying omics studies in the Gene Expression Omnibus data repository.

  PMID 40926267 · PMC12421755 · Genome biology · 2025 · 8 claims · 3 setups

  Has reproduction · 99

  Across 253 manually curated studies (164,000+ samples), over 25% of critical metadata are omitted, with only 74.8% of relevant phenotypes available overall.

  randomly repositories geo manual automated

• Genetic association study and meta-analysis of the HTR2C Cys23Ser polymorphism and migraine.

  PMID 17901921 · PMC3451673 · The journal of headache and pain · 2007 · 8 claims · 3 setups

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  The HTR2C Cys23Ser polymorphism is not significantly associated with migraine or migraine with aura in the case-control study

  blood-derived migraine pooled allelic case-control meta-analysis

• Risk of pancreatic cancer in families with Lynch syndrome.

  PMID 19861671 · PMC4091624 · JAMA · 2009 · 7 claims · 3 setups

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  Families with germline MMR gene mutations (Lynch Syndrome) have an 8.6-fold increased risk of pancreatic cancer compared to the general U.S. population.

  individuals extracted same modified germline proportional

• Changes in social contacts in England during the COVID-19 pandemic between March 2020 and March 2021 as measured by the CoMix survey: A repeated cross-sectional study.

  PMID 35231023 · PMC8887739 · PLoS medicine · 2022 · 8 claims · 2 setups

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  Recorded social contacts in England decreased dramatically compared to prepandemic levels measured by the POLYMOD study

  general population comix polymod

• Environmental genomics: an opportunity for the NIEHS.

  PMID 16393638 · PMC1332673 · Environmental health perspectives · 2006 · 8 claims · 5 setups

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  Intrauterine exposure to endocrine-disrupting pesticides can produce transgenerational adverse effects on male fertility

  intrauterine offspring monozygotic specified phenotypic methylation receptor

• Translation of genomics research at the bedside: the promise and the challenge.

  PMID 18804420 · PMC2602964 · Clinical immunology (Orlando, Fla.) · 2008 · 7 claims · 4 setups

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  Kodama et al. used gene expression microarrays to profile molecular perturbations in lymph nodes, spleen, and peripheral blood of NOD mice during development of type 1 diabetes

  nod nod.b10 gene

• Structural modeling and functional characterization of a novel gain-of-function TLR8 variant causing severe inflammatory syndrome.

  PMID 41729082 · PMC12956005 · JCI insight · 2026 · 8 claims · 8 setups

  Has reproduction · 89

  TLR8 A518T is a gain-of-function variant that enhances NF-κB activation and increases secretion of proinflammatory cytokines upon stimulation compared with WT TLR8

  plasma pbmcs expressing tlr8 targeted plasma quantitative