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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The FAS gene, brain volume, and disease progression in Alzheimer's disease.
PMID 19766542 · PMC3100774 · Alzheimer's & dementia : the journal of the Alzheimer's Association · 2010 · 8 claims · 4 setups
The minor (T) allele of rs1468063 in FAS is significantly associated with faster AD progression after permutation-based multiple-testing correction
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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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Current status and the future for the genetics of type I diabetes.
PMID 19956094 · PMC2805458 · Genes and immunity · 2009 · 8 claims · 7 setups
A T1DGC genome-wide association meta-analysis of >7500 cases and >9000 controls identified 42 distinct genomic locations associated with T1D at P<10^-6.
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A simple and efficient algorithm for genome-wide homozygosity analysis in disease.
PMID 19756043 · PMC2758715 · Molecular systems biology · 2009 · 8 claims · 4 setups
A genome-wide AH analysis (GAHA) algorithm can identify disease-associated loci by comparing frequencies of homozygous segments between cases and controls using a z-statistic proportion test
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Emerging strategies and applications of pharmacogenomics.
PMID 15606999 · PMC3500198 · Human genomics · 2004 · 7 claims · 7 setups
Effective pharmacogenomics requires infrastructure including informed consent processes, accurate phenotypic data collection, high-throughput genotyping technology, and integrated information technology systems.
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Relation of candidate genes that encode for endothelial function to migraine and stroke: the Stroke Prevention in Young Women study.
PMID 19661472 · PMC2753702 · Stroke · 2009 · 8 claims · 6 setups
EDN SNP rs1800542 is associated with increased ischemic stroke risk in Caucasian women
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Multimodal techniques for diagnosis and prognosis of Alzheimer's disease.
PMID 19829371 · PMC2810658 · Nature · 2009 · 8 claims · 8 setups
AD pathology accumulates for approximately 10-15 years in a preclinical phase before synaptic and neuronal loss manifest as cognitive decline
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Genetics and irritable bowel syndrome: from genomics to intermediate phenotype and pharmacogenetics.
PMID 19655247 · PMC2903621 · Digestive diseases and sciences · 2009 · 8 claims · 8 setups
Candidate gene association studies with IBS symptom phenotype (e.g., SLC6A4, GNB3, IL-10) have generally produced inconsistent, unreplicated results.
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Data-driven projections of candidate enhancer-activating SNPs in immune regulation.
PMID 40011812 · PMC11863423 · BMC genomics · 2025 · 7 claims · 7 setups
A data-driven computational protocol combining motif scanning, open-chromatin filtering, gene proximity, dbSNP validation, spacing, and cross-species conservation can prioritize SNPs likely to create functional GAS motifs.
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Mass spectrometry-based biomarker discovery: toward a global proteome index of individuality.
PMID 20636062 · PMC3140421 · Annual review of analytical chemistry (Palo Alto, Calif.) · 2009 · 8 claims · 4 setups
Very few large-scale longitudinal MS-based proteomics studies have been performed to establish analytical variability relative to true biological variability.
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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
SNPs in LECT2 and TGFBI show independent associations with the DTH+ phenotype, indicating two separate genes in this region control DTH+
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Visual exploration of genetic association with voxel-based imaging phenotypes in an MCI/AD study.
PMID 19963597 · PMC2928997 · Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference · 2009 · 6 claims · 4 setups
Developed an imaging genomic browsing system allowing whole genome and entire brain analyses via visual exploration
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Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan.
PMID 16569251 · PMC1488868 · BMC cancer · 2006 · 7 claims · 4 setups
Three novel APC germline mutations were identified in Taiwanese subjects: a frameshift deletion at codon 460 (g.1378delG), and two missense substitutions p.V1125A and p.S1126R
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A mouse to human search for plasma proteome changes associated with pancreatic tumor development.
PMID 18547137 · PMC2504036 · PLoS medicine · 2008 · 7 claims · 8 setups
GEM models combined with in-depth proteomic analysis provide a useful strategy to identify candidate cancer markers applicable to human disease with potential for early detection
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Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.
PMID 19844255 · PMC2824775 · European journal of human genetics : EJHG · 2010 · 7 claims · 7 setups
A locus on chromosome 16q23-24 affects HDL-C levels in two independent French-Canadian family studies (QUE and SLSJ)
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A critical reassessment of the role of mitochondria in tumorigenesis.
PMID 16187796 · PMC1240051 · PLoS medicine · 2005 · 8 claims · 8 setups
A significant number of published medical mtDNA cancer studies are based on obviously flawed sequencing results.
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Genetics of bipolar disorder.
PMID 18689285 · PMC3181866 · Dialogues in clinical neuroscience · 2008 · 8 claims · 6 setups
BP-I has a strong genetic component supported by segregation, adoption, and twin studies across populations
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Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.
PMID 18616530 · PMC4732719 · Clinical genetics · 2008 · 8 claims · 8 setups
TMC1 mutations were identified in seven of the families/patients segregating hearing loss linked to DFNA36/DFNB7-11
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SNP selection for genes of iron metabolism in a study of genetic modifiers of hemochromatosis.
PMID 18366708 · PMC2289803 · BMC medical genetics · 2008 · 7 claims · 6 setups
Illumina validation/design scores above 0.6 are not strongly correlated with actual SNP genotyping performance (Gentrain score)