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).
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Blood Pressure Sunday: introducing genomics to the community through family history.
PMID 15888234 · PMC1327717 · Preventing chronic disease · 2005 · 7 claims · 5 setups
Family history is a significant, longstanding risk factor for high blood pressure and can serve as a practical 'genomic tool' for public health given that routine DNA-based risk testing is not yet available.
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Human genomic variation.
PMID 11178257 · PMC138878 · Genome biology · 2000 · 8 claims · 7 setups
Lewontin's 1972 analysis of 17 blood-group/protein loci found 85% of human genetic variation lies within individuals of a nation/tribe, 8% between populations within races, and only 6% between races
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Relationship between cyclooxygenase 8473T>C polymorphism and the risk of lung cancer: a case-control study.
PMID 16542464 · PMC1468421 · BMC cancer · 2006 · 8 claims · 4 setups
The COX-2 8473T>C genotype distribution did not differ significantly between overall lung cancer cases and controls.
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Effect of the 3'APOB-VNTR polymorphism on the lipid profiles in the Guangxi Hei Yi Zhuang and Han populations.
PMID 17640344 · PMC1939985 · BMC medical genetics · 2007 · 8 claims · 5 setups
Significant differences in 3'APOB-VNTR allele and genotype frequencies exist between Hei Yi Zhuang and Han populations
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A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia.
PMID 16968799 · PMC1865483 · The Journal of clinical endocrinology and metabolism · 2006 · 7 claims · 8 setups
A homozygous R262Q GNRHR mutation was identified in two brothers from an Asian Indian family, one of 11 families studied with delayed puberty or discordant IHH/delayed puberty siblings.
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Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.
PMID 17653036 · PMC2774456 · Molecular vision · 2007 · 8 claims · 4 setups
A novel heterozygous mutation (383A>T; D128V) in exon 5 of CRYBB2 cosegregates with congenital cataract in all three affected family members and is absent in unaffected relatives.
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Complex germline and somatic mutation processes at a haploid human minisatellite shown by single-molecule analysis.
PMID 18929582 · PMC2599865 · Mutation research · 2008 · 8 claims · 5 setups
Overall MSY1 mutation frequencies in sperm (2.68%) and blood (1.88%) are not significantly different
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Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
PMID 18193044 · PMC2682493 · Nature genetics · 2008 · 8 claims · 7 setups
GWAS plus targeted replication identified 18 loci reproducibly associated with LDL cholesterol, HDL cholesterol, and/or triglycerides, six of which are newly identified
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Targeted disruption of the S1P2 sphingosine 1-phosphate receptor gene leads to diffuse large B-cell lymphoma formation.
PMID 19903857 · PMC2973841 · Cancer research · 2009 · 8 claims · 8 setups
S1P2−/− mice develop clonal B-cell lymphomas with age, with ~half affected by 1.5-2 years
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The association between headache and Val158Met polymorphism in the catechol-O-methyltransferase gene: the HUNT Study.
PMID 16688411 · PMC3451703 · The journal of headache and pain · 2006 · 7 claims · 3 setups
No association was found between COMT Val158Met polymorphism and migraine in a population-based sample.
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Putting science over supposition in the arena of personalized genomics.
PMID 18665132 · PMC2531214 · Nature genetics · 2008 · 6 claims · 3 setups
There is a rapidly widening gap between gene-disease association discovery and research into the public health/clinical utility of that information.
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Has reproduction · 83
Gene-expression patterns in peripheral blood classify familial breast cancer susceptibility.
PMID 26538066 · PMC4634735 · BMC medical genomics · 2015 · 8 claims · 7 setups
A multigene expression biomarker from PBMCs accurately classifies familial breast cancer (FBC) status
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Utah's Family High Risk Program: bridging the gap between genomics and public health.
PMID 15888235 · PMC1327718 · Preventing chronic disease · 2005 · 8 claims · 6 setups
Collection of family history through the Family High Risk Program (FHRP) is a cost-effective method for identifying and intervening with high-risk populations for chronic disease
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Polymorphism and epitope sharing between the alleles of merozoite surface protein-1 of Plasmodium falciparum among Indian isolates.
PMID 17659072 · PMC1950510 · Malaria journal · 2007 · 7 claims · 6 setups
PfMAD20 is the predominant PfMSP-1 allelic type among Indian field isolates
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Has reproduction · 68
Positive Relationships between Intraocular Pressure and Thyroid Function in Graves' Ophthalmopathy: A Three-Aspect Evidence Analysis.
PMID 40992768 · PMC12479196 · Yonsei medical journal · 2025 · 7 claims · 5 setups
Thyroid function parameters (FT3, FT4) and disease activity (CAS) are significantly associated with elevated IOP in GO patients
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Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report.
PMID 12839625 · PMC166146 · BMC neurology · 2003 · 8 claims · 7 setups
The patient is a compound heterozygote with a different splicing mutation in each Perlecan allele, causing a significant reduction in production of the normal (wild-type) protein.
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Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer.
PMID 14970868 · PMC2410159 · British journal of cancer · 2004 · 7 claims · 5 setups
A large fraction of high-risk individuals in mutation-positive HNPCC families does not undergo genetic testing despite its benefits.
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Genotype-phenotype associations: modulation by diet and obesity.
PMID 19037211 · PMC2771769 · Obesity (Silver Spring, Md.) · 2008 · 8 claims · 7 setups
Obesity modulates the association between APOE genotype and fasting insulin/glucose levels in men, with obese APOE4 carriers showing higher insulin and glucose than other obese genotype groups.