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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Large-scale copy number variants (CNVs): distribution in normal subjects and FISH/real-time qPCR analysis.
PMID 17565693 · PMC1920519 · BMC genomics · 2007 · 8 claims · 4 setups
42 different CNVs were detected in 27 phenotypically normal individuals using 1 Mb resolution BAC array-CGH
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Completing the map of human genetic variation.
PMID 17495918 · PMC2685471 · Nature · 2007 · 8 claims · 5 setups
A community resource initiative will sequence fosmid and BAC clone libraries from 62 HapMap individuals to systematically discover and resolve structural genetic variants at nucleotide resolution
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Imputation of missing genotypes: an empirical evaluation of IMPUTE.
PMID 19077279 · PMC2636842 · BMC genetics · 2008 · 8 claims · 7 setups
IMPUTE achieves 97% median genotype imputation accuracy in Caucasian (NNC) subjects when <10% of SNPs are untyped
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Genomic profiling of microRNA and messenger RNA reveals deregulated microRNA expression in prostate cancer.
PMID 18676839 · PMC2597340 · Cancer research · 2008 · 8 claims · 7 setups
MicroRNA processing components (Dicer, DGCR8) and microRNA host genes (MCM7, C9orf5) are significantly up-regulated in prostate tumors versus non-tumor tissue
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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)
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Microdroplet-based PCR enrichment for large-scale targeted sequencing.
PMID 19881494 · PMC2779736 · Nature biotechnology · 2009 · 7 claims · 5 setups
Microdroplet PCR enables massively parallel singleplex amplification (up to ~1.5 million reactions, up to 4,000 targets) for targeted sequencing enrichment
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Personalized copy number and segmental duplication maps using next-generation sequencing.
PMID 19718026 · PMC2875196 · Nature genetics · 2009 · 5 claims · 5 setups
mrFAST maps short reads to all possible locations in the reference genome, enabling read-depth-based prediction of absolute copy number in both unique and duplicated sequence, including discrimination between highly identical gene paralogs.
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Has reproduction · 84
AI-assisted discovery of an ethnicity-influenced driver of cell transformation in esophageal and gastroesophageal junction adenocarcinomas.
PMID 36134663 · PMC9675486 · JCI insight · 2022 · 8 claims · 8 setups
An AI-guided Boolean network approach (BoNE) models transcriptomic continuum states of normal esophagus, BE, and EAC to derive classifier gene signatures
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Has reproduction · 55
Gene module regulation in dilated cardiomyopathy and the role of Na/K-ATPase.
PMID 35901050 · PMC9333241 · PloS one · 2022 · 7 claims · 7 setups
Several WGCNA gene co-expression modules are significantly associated with both LVEF and the DCM phenotype in heart failure patients.
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Has reproduction · 82
Whole-genome analysis of a multidrug-resistant Klebsiella michiganensis environmental isolate from an orthopedic ward in Mwanza, Tanzania reveals IncF-family plasmid replicon signatures associated with resistance determinants.
PMID 41957580 · PMC13173886 · BMC genomics · 2026 · 8 claims · 8 setups
An isolate phenotypically identified as K. oxytoca was reclassified by genome-based taxonomy (GTDB-Tk, ANI, BLAST) as Klebsiella michiganensis
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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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Has reproduction · 93
Population genomics of the Wolbachia endosymbiont in Drosophila melanogaster.
PMID 23284297 · PMC3527207 · PLoS genetics · 2012 · 8 claims · 8 setups
Wolbachia infection status can be accurately predicted in silico from whole-genome shotgun sequence of individual host strains, showing 99% concordance with diagnostic PCR.
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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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Continued colonization of the human genome by mitochondrial DNA.
PMID 15361937 · PMC515365 · PLoS biology · 2004 · 7 claims · 6 setups
NUMT insertion into nuclear chromosomes is an ongoing process shaped by double-strand-break repair (as shown in yeast) and continuing in humans.
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TP73 allelic expression in human brain and allele frequencies in Alzheimer's disease.
PMID 15175114 · PMC420466 · BMC medical genetics · 2004 · 8 claims · 6 setups
A -386G/A SNP in the TP73 P3 promoter is weakly but significantly associated with AD risk in a tri-ethnic elderly population.
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Analysis of concordance of different haplotype block partitioning algorithms.
PMID 16356172 · PMC1343594 · BMC bioinformatics · 2005 · 7 claims · 7 setups
Each block partitioning algorithm infers blocks differing in number, size, and coverage under different SNP density and allele frequency conditions.
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Variation in conserved non-coding sequences on chromosome 5q and susceptibility to asthma and atopy.
PMID 16336695 · PMC1325232 · Respiratory research · 2005 · 6 claims · 8 setups
There is overall little sequence variation in the conserved non-coding elements (CNEs) on 5q31, including none detected in CNE-B/CNS-1
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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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Single nucleotide polymorphisms in bone turnover-related genes in Koreans: ethnic differences in linkage disequilibrium and haplotype.
PMID 18036257 · PMC2222243 · BMC medical genetics · 2007 · 8 claims · 5 setups
Resequencing 81 candidate osteoporosis genes in 24 Koreans identified 942 variants (888 SNPs, 43 indels, 11 microsatellites)
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Prostate cancer genomics: towards a new understanding.
PMID 19104501 · PMC2721916 · Nature reviews. Genetics · 2009 · 8 claims · 8 setups
Multiple GWAS have identified over a dozen replicated germline SNPs each associated with a modest increase in prostate cancer risk