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).

Publications 1.3k Datasets 392.5k Experiments 103

Assay: candidate-gene ✕ Clear

Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota.

PMID 17327828 · PMC2633468 · Molecular vision · 2007 · 6 claims · 5 setups

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AD non-syndromic high-grade myopia in the Hutterite family MYO-101 shows significant linkage to a locus on chromosome 10q21.1

hutterite same pcdh15 genome-wide fine-point candidate
Obesity genes: so close and yet so far..

PMID 19046411 · PMC2776388 · Journal of biology · 2008 · 8 claims · 7 setups

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GWA studies have confirmed only a few obesity-associated loci (INSIG2, FTO, MC4R) so far, each with modest individual effects on BMI

population drosophila founder genome-wide candidate-region candidate
Gene-environment interaction and obesity.

PMID 19019037 · PMC3683966 · Nutrition reviews · 2008 · 8 claims · 8 setups

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Obesity susceptibility is largely genetically determined but requires environmental exposure (excess energy intake, low fiber, physical inactivity) to manifest phenotypically.

framingham european individuals healthy genome-wide candidate gene-diet
The EPHA2 gene is associated with cataracts linked to chromosome 1p.

PMID 19005574 · PMC2582197 · Molecular vision · 2008 · 5 claims · 5 setups

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A heterozygous c.2842G>T (p.G948W) mutation in EPHA2 exon 17 causes autosomal dominant posterior polar cataracts in family Mu

family case-control genome-wide str pcr
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.

PMID 18987736 · PMC2603574 · Nature · 2008 · 8 claims · 8 setups

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Whole genome sequencing can identify unbiased, novel somatic mutations in a cytogenetically normal AML genome that would not have been found by candidate-gene resequencing.

aml tumor novo additional genome snp comparative
Integrated weighted gene co-expression network analysis with an application to chronic fatigue syndrome.

PMID 18986552 · PMC2625353 · BMC systems biology · 2008 · 8 claims · 6 setups

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Integrated WGCNA (IWGCNA), which adds genetic marker-based causality testing to standard WGCNA, can identify a disease-related module and its causal drivers

cfs most candidate second microarray snp weighted
A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.

PMID 18958306 · PMC2573734 · Molecular vision · 2008 · 8 claims · 7 setups

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The disease locus maps to chromosome 3q21-25, linked to markers D3S2322 and D3S1541

four-generation bfsp2 wild-type microsatellite direct denaturing
Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.

PMID 18808722 · PMC2570672 · BMC medical genetics · 2008 · 8 claims · 7 setups

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LQTS-associated mutations were identified in 8 of 112 families studied

large lqts family mutation linkage direct single-strand
Systems genetics of alcoholism.

PMID 23584748 · PMC3860445 · Alcohol research & health : the journal of the National Institute on Alcohol Abuse and Alcoholism · 2008 · 8 claims · 8 setups

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Alcoholism is a multifactorial disease driven by interacting genetic, social, and environmental factors, with genetics accounting for 50-60% of risk.

families drosophila mice han linkage metabolic gene
Genetics of bipolar disorder.

PMID 18689285 · PMC3181866 · Dialogues in clinical neuroscience · 2008 · 8 claims · 6 setups

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BP-I has a strong genetic component supported by segregation, adoption, and twin studies across populations

multiplex pooled bp-affected monozygotic genome-wide genome candidate
A novel GJA8 mutation causing a recessive triangular cataract.

PMID 18483562 · PMC2375854 · Molecular vision · 2008 · 8 claims · 6 setups

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A homozygous single base-pair insertion (c.776insG) in GJA8 causes a recessive triangular nuclear cataract in two affected siblings.

proband's blood-derived genomic family rt-pcr pcr restriction
Mechanisms of disease: genetic insights into the etiology of type 2 diabetes and obesity.

PMID 18212765 · PMC7116808 · Nature clinical practice. Endocrinology & metabolism · 2008 · 8 claims · 8 setups

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Six high-density genome-wide association studies in over 19,000 individuals identified approximately ten T2D-susceptibility loci, including HHEX, IDE, SLC30A8, FTO, CDKAL1, CDKN2A/CDKN2B, and IGF2BP2.

t2d icelandic population tcf7l2 genome-wide linkage candidate-gene
The mammalian phenotype ontology: enabling robust annotation and comparative analysis.

PMID 20052305 · PMC2801442 · Wiley interdisciplinary reviews. Systems biology and medicine · 2009 · 8 claims · 6 setups

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The Mammalian Phenotype (MP) Ontology enables classification and organization of phenotypic data for mouse and other mammalian species in a computationally useful, standardized manner.

genotypes neural inbred viable phenotype phylogenetic comparative
Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals.

PMID 20018283 · PMC2845297 · Atherosclerosis · 2010 · 8 claims · 7 setups

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The ADIPOQ locus is the only major gene locus for plasma adiponectin, reaching genome-wide significance in combined and sex-stratified analyses

population-based cohorts gwa plasma genome-wide replication candidate
Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.

PMID 19890111 · PMC2787406 · The New England journal of medicine · 2009 · 8 claims · 8 setups

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Homozygous loss-of-function mutations in IL10RA or IL10RB cause severe early-onset enterocolitis

consanguineous patients ebv-transformed pbmcs genetic-linkage single-nucleotide-polymorphism candidate-gene
Genetical genomic determinants of alcohol consumption in rats and humans.

PMID 19874574 · PMC2777866 · BMC biology · 2009 · 8 claims · 6 setups

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A genetical genomics approach combining brain gene expression, bQTL, and eQTL analysis in HXB/BXH RI rats identifies candidate genes for alcohol consumption

hxb naive caucasian two-bottle behavioral brain
Targeted capture and massively parallel sequencing of 12 human exomes.

PMID 19684571 · PMC2844771 · Nature · 2009 · 8 claims · 8 setups

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Targeted exome capture combined with massively parallel sequencing sensitively and specifically identifies rare and common variants across >300 Mb of coding sequence

hapmap unrelated na18507 randomly targeted array-based molecular
A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract.

PMID 19668596 · PMC2722711 · Molecular vision · 2009 · 8 claims · 6 setups

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A novel heterozygous CRYGD mutation c.43C>A (R15S) causes congenital coralliform cataract in Family A

family genomic crygd lens two-point microsatellite direct
Recurring mutations found by sequencing an acute myeloid leukemia genome.

PMID 19657110 · PMC3201812 · The New England journal of medicine · 2009 · 8 claims · 8 setups

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Deep paired tumor/normal whole-genome sequencing of a cytogenetically normal AML-M1 genome identified 12 somatic coding (tier 1) mutations and 52 somatic tier 2 (conserved/regulatory) mutations.

aml-m1 tumor bone additional whole-genome snp gene-expression
Identify GDPD3 as a key regulator of epithelial-mesenchymal transition and prostate adenocarcinoma progression via the LPA/LPAR1/AKT axis: transcriptomic and experimental study.

PMID 41562071 · PMC12813044 · Frontiers in immunology · 2025 · 7 claims · 8 setups

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GDPD3 is upregulated in PRAD tumor tissue and its knockdown inhibits tumor cell proliferation, invasion, and migration

prad tcga-prad du145 scrna-seq bulk wgcna

Experiments

Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota.

Obesity genes: so close and yet so far..

Gene-environment interaction and obesity.

The EPHA2 gene is associated with cataracts linked to chromosome 1p.

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.

Integrated weighted gene co-expression network analysis with an application to chronic fatigue syndrome.

A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.

Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.

Systems genetics of alcoholism.

Genetics of bipolar disorder.

A novel GJA8 mutation causing a recessive triangular cataract.

Mechanisms of disease: genetic insights into the etiology of type 2 diabetes and obesity.

The mammalian phenotype ontology: enabling robust annotation and comparative analysis.

Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals.

Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.

Genetical genomic determinants of alcohol consumption in rats and humans.

Targeted capture and massively parallel sequencing of 12 human exomes.

A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract.

Recurring mutations found by sequencing an acute myeloid leukemia genome.

Identify GDPD3 as a key regulator of epithelial-mesenchymal transition and prostate adenocarcinoma progression via the LPA/LPAR1/AKT axis: transcriptomic and experimental study.