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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Relative impact of nucleotide and copy number variation on gene expression phenotypes.
PMID 17289997 · PMC2665772 · Science (New York, N.Y.) · 2007 · 8 claims · 5 setups
SNPs and CNVs capture largely non-overlapping signals of genetic variation affecting gene expression
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Computational analysis of the synergy among multiple interacting genes.
PMID 17299419 · PMC1828751 · Molecular systems biology · 2007 · 8 claims · 3 setups
Multivariate synergy of a set of factors with respect to a phenotype can be defined via the maximum-information partition, i.e., comparing the mutual information of the full set to the best achievable sum of mutual information over any partition into disjoint subsets.
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Detecting imbalanced expression of SNP alleles by minisequencing on microarrays.
PMID 15500681 · PMC529269 · BMC biotechnology · 2004 · 8 claims · 7 setups
Both microarray minisequencing formats accurately quantify SNP allele ratios, with R2 > 0.95 for the majority of regression lines
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Olden times: looking back on a career at the NIEHS.
PMID 15289171 · PMC1247486 · Environmental health perspectives · 2004 · 8 claims · 3 setups
Kenneth Olden served 13 years as director of NIEHS and the National Toxicology Program, the first African American to head an NIH institute
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Current and future directions in genomics of amyotrophic lateral sclerosis.
PMID 18625410 · PMC3524513 · Physical medicine and rehabilitation clinics of North America · 2008 · 8 claims · 8 setups
Familial ALS (FALS, 5-10% of cases) follows Mendelian autosomal dominant inheritance, with 20% caused by SOD1 mutations and 80% by unknown mutations
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Pharmacogenomics of gemcitabine: can genetic studies lead to tailor-made therapy?
PMID 17595663 · PMC2360307 · British journal of cancer · 2007 · 8 claims · 14 setups
A SNP in the cytidine deaminase (CDA) gene (208G>A, haplotype *3) decreases gemcitabine clearance, increases Cmax/AUC, and increases neutropenia risk when gemcitabine is combined with platinum drugs or 5-FU
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Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.
PMID 17267408 · PMC1865061 · Nucleic acids research · 2007 · 6 claims · 6 setups
Measuring allelic imbalance (AI) of two SNP alleles within the same sample is an effective approach for identifying cis-acting rSNPs, since each allele serves as an internal control for the other.
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The estrogen hypothesis of schizophrenia implicates glucose metabolism: association study in three independent samples.
PMID 18460190 · PMC2391158 · BMC medical genetics · 2008 · 8 claims · 4 setups
A novel candidate-gene selection strategy combining unbiased schizophrenia expression/linkage data with the estrogen hypothesis as a biological filter identifies glycolysis as a candidate pathway network for schizophrenia
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Aryl hydrocarbon receptor nuclear translocator (ARNT) gene as a positional and functional candidate for type 2 diabetes and prediabetic intermediate traits: Mutation detection, case-control studies, and gene expression analysis.
PMID 18366646 · PMC2323364 · BMC medical genetics · 2008 · 7 claims · 8 setups
Common ARNT variants are not associated with type 2 diabetes in European American or African American case-control cohorts
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Identification of novel gene amplifications in breast cancer and coexistence of gene amplification with an activating mutation of PIK3CA.
PMID 19706770 · PMC2745517 · Cancer research · 2009 · 8 claims · 8 setups
Genome-wide DNA copy number analysis of 161 primary breast tumors identified six novel focally amplified genes: POLD3, IRAK4, IRX2, TBL1XR1, ASPH, and BRD4
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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
Integrated WGCNA (IWGCNA), which adds genetic marker-based causality testing to standard WGCNA, can identify a disease-related module and its causal drivers
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6th annual meeting of the Complex Trait Consortium.
PMID 17906895 · PMC2042027 · Mammalian genome : official journal of the International Mammalian Genome Society · 2007 · 8 claims · 7 setups
The NIEHS Perlegen/resequencing project has generated over 8.5 million SNPs from 15 inbred mouse strains but shows a high false-negative discovery rate, with an estimated 45 million SNPs actually present.
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Functional nsSNPs from carcinogenesis-related genes expressed in breast tissue: potential breast cancer risk alleles and their distribution across human populations.
PMID 16595073 · PMC3500178 · Human genomics · 2006 · 7 claims · 5 setups
A bioinformatics strategy cross-referencing carcinogenesis-related gene lists with breast-tissue expression data can identify candidate breast cancer risk nsSNPs.
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Cis sequence effects on gene expression.
PMID 17727713 · PMC2077339 · BMC genomics · 2007 · 6 claims · 4 setups
Approximately one in four genes (8 of 30, 26.7%) exhibit statistically significant cis sequence effects on gene expression in this study, consistent with a literature-wide weighted average of 26.2%
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Environmental genome project: focusing on differences to understand the whole.
PMID 12460813 · PMC1241127 · Environmental health perspectives · 2002 · 8 claims · 4 setups
The EGP has generated a working list of more than 550 environmentally responsive genes involved in pathways such as metabolism, DNA repair, and cell cycle control as candidates for SNP resequencing.
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Can we find the genes involved in complex traits?
PMID 15461809 · PMC545590 · Genome biology · 2004 · 8 claims · 8 setups
Large regions of the mouse genome exist in linkage disequilibrium (LD), including a 40 Mb region on the X chromosome, reflecting selection against recombination to preserve allelic combinations.
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Prospective health care: the second transformation of medicine.
PMID 16522218 · PMC1431721 · Genome biology · 2006 · 8 claims · 7 setups
Predictive biomarkers (genomic, proteomic, metabolomic) will enable quantification of disease risk and anticipation of onset before pathological damage occurs.
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Interpretation of genomic data: questions and answers.
PMID 18582627 · PMC2528831 · Seminars in hematology · 2008 · 8 claims · 6 setups
The main challenge in using genomic technology in cancer research is not managing the volume of data but the proper design, analysis, and reporting of studies.
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Analyzing biomarker discovery: Estimating the reproducibility of biomarker sets.
PMID 35901020 · PMC9333302 · PloS one · 2022 · 7 claims · 3 setups
A Reproducibility Score, RS(D,BD), defined as the average Jaccard overlap between biomarker sets found by the same discovery process on comparable datasets from the same distribution, quantifies biomarker reproducibility on a 0-1 scale
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Social and ethical implications of genomics, race, ethnicity, and health inequities.
PMID 19000599 · PMC2892396 · Seminars in oncology nursing · 2008 · 8 claims · 5 setups
Race and ethnicity are increasingly viewed as genetic surrogates for predicting disease risk and treatment response, though directly assessing genomic and environmental factors is more accurate.