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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Predictive genomics of cardioembolic stroke.
PMID 19064790 · PMC2752697 · Stroke · 2009 · 8 claims · 4 setups
A Bayesian network multivariate model achieves 86% predictive accuracy (AUC) for cardioembolic stroke on fitted values
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Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.
PMID 20037587 · PMC3786192 · Nature genetics · 2010 · 8 claims · 6 setups
SPSMA and CMT2C are allelic disorders caused by mutations in TRPV4
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Functional genomics in zebrafish permits rapid characterization of novel platelet membrane proteins.
PMID 19109564 · PMC2680375 · Blood · 2009 · 8 claims · 6 setups
Zebrafish morpholino knockdown combined with a laser-induced arterial thrombosis assay is a fast, powerful method for initial functional screening of novel platelet genes.
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Cardiovascular genomics, personalized medicine, and the National Heart, Lung, and Blood Institute: part I: the beginning of an era.
PMID 20031542 · PMC3097376 · Circulation. Cardiovascular genetics · 2008 · 7 claims · 8 setups
Rare Mendelian mutations (e.g., in sarcomere genes, ion channels, FBN1, LMNA) cause specific rare cardiovascular conditions (hypertrophic/dilated cardiomyopathy, long-QT syndrome, thoracic aortic aneurysm, progeria) but explain little of common CVD risk.
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A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.
PMID 18958306 · PMC2573734 · Molecular vision · 2008 · 8 claims · 7 setups
The disease locus maps to chromosome 3q21-25, linked to markers D3S2322 and D3S1541
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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
A novel heterozygous CRYGD mutation c.43C>A (R15S) causes congenital coralliform cataract in Family A
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The EPHA2 gene is associated with cataracts linked to chromosome 1p.
PMID 19005574 · PMC2582197 · Molecular vision · 2008 · 5 claims · 5 setups
A heterozygous c.2842G>T (p.G948W) mutation in EPHA2 exon 17 causes autosomal dominant posterior polar cataracts in family Mu
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Critical care: applying genomics to inflammation outcomes.
PMID 16330338 · PMC1314943 · Environmental health perspectives · 2005 · 8 claims · 6 setups
Genetic factors drive key aspects of an individual's inflammatory outcome after trauma, burns, or sepsis
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Constraints to gene flow increase the risk of genome erosion in the Ngorongoro Crater lion population.
PMID 40258987 · PMC12012037 · Communications biology · 2025 · 8 claims · 9 setups
200 years of quasi-isolation and the 1962 epizootic caused a two-fold increase in inbreeding and an excess of highly deleterious mutations in Crater lions relative to other Greater Serengeti populations
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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.
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A novel GJA8 mutation causing a recessive triangular cataract.
PMID 18483562 · PMC2375854 · Molecular vision · 2008 · 8 claims · 6 setups
A homozygous single base-pair insertion (c.776insG) in GJA8 causes a recessive triangular nuclear cataract in two affected siblings.
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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
LQTS-associated mutations were identified in 8 of 112 families studied
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Meta-analysis of inter-species liver co-expression networks elucidates traits associated with common human diseases.
PMID 20019805 · PMC2787626 · PLoS computational biology · 2009 · 8 claims · 8 setups
A novel semi-parametric meta-analysis method (based on a gene-centric Glass's d effect size) outperforms existing parametric and non-parametric meta-analysis methods at identifying functionally coherent gene pairs across species.
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The meso-genomic era.
PMID 11516332 · PMC139414 · Genome biology · 2001 · 8 claims · 8 setups
Linkage disequilibrium (LD) between SNPs extends much further in Northern European populations (~120 kb) than in a Nigerian population (<10 kb), reflecting differing population histories (bottlenecks vs. constant expansion).
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Of rats and men.
PMID 15003114 · PMC395761 · Genome biology · 2004 · 8 claims · 10 setups
The rat genome has been sequenced to draft level, with over 90% of the genome sampled using more than 36 million sequence reads (assembly version 3.1)