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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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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More breast cancer genes?
PMID 11305950 · PMC138680 · Breast cancer research : BCR · 2001 · 8 claims · 7 setups
A new high-risk breast cancer gene termed BRCAX may exist on chromosome 13q, identified via CGH and linkage analysis in Nordic families
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HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer.
PMID 17117180 · PMC2360759 · British journal of cancer · 2006 · 6 claims · 5 setups
Common genetic variation (tSNPs and haplotypes) across the 400-kb 17q21 ERBB2 amplicon is not associated with breast cancer risk in British women.
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Human stool contains a previously unrecognized diversity of novel astroviruses.
PMID 19814825 · PMC2765957 · Virology journal · 2009 · 8 claims · 8 setups
Human stool contains a previously unrecognized diversity of astroviruses beyond the classic 8 serotypes and AstV-MLB1/AstV-VA1
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Epigenetics and phenotypic variation in mammals.
PMID 16688527 · PMC3906716 · Mammalian genome : official journal of the International Mammalian Genome Society · 2006 · 8 claims · 8 setups
Epigenetic modifications are mitotically heritable, but the fidelity of meiotic/transgenerational inheritance in mammals is poorly understood and evidence in mammals is scanty.
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The Genographic Project public participation mitochondrial DNA database.
PMID 17604454 · PMC1904368 · PLoS genetics · 2007 · 7 claims · 4 setups
The Genographic Project created the largest standardized human mtDNA database to date, comprising 78,590 genotypes from the first 18 months of public participation.
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Update of the G2D tool for prioritization of gene candidates to inherited diseases.
PMID 17478516 · PMC1933178 · Nucleic acids research · 2007 · 8 claims · 4 setups
G2D is a web server that prioritizes candidate genes for inherited diseases using three distinct algorithms based on different input information.
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Has reproduction · 76
Tracing human genetic histories and natural selection with precise local ancestry inference.
PMID 40379651 · PMC12084304 · Nature communications · 2025 · 7 claims · 7 setups
Orchestra, a two-stage LAI method combining a recombination-distance base layer with a deep learning (convolutional + attention) smoothing module, outperforms RFmix, FLARE and Gnomix in precision and recall across simulated admixture generations.
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Has reproduction · 50
Ancient gene duplicates in Gossypium (cotton) exhibit near-complete expression divergence.
PMID 24558256 · PMC3971588 · Genome biology and evolution · 2014 · 8 claims · 8 setups
Nearly all (99.4%) ancient paralog pairs in Gossypium raimondii are differentially expressed in at least one of three tissues (petal, leaf, seed), indicating massive, near-complete expression-level divergence.
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G-compass: a web-based comparative genome browser between human and other vertebrate genomes.
PMID 19846439 · PMC2788932 · Bioinformatics (Oxford, England) · 2009 · 7 claims · 2 setups
G-compass is a web-based tool that displays two corresponding genomic regions from human and another vertebrate species simultaneously in parallel, without requiring client installation.
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ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase.
PMID 14617382 · PMC305365 · BMC genetics · 2003 · 8 claims · 7 setups
A novel O1v-A2 hybrid allele, containing four missense mutations, causes the A weak B phenotype in five individuals of African descent
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Sequencing the regulatory genome.
PMID 18598374 · PMC2481419 · Genome biology · 2008 · 8 claims · 8 setups
Nuclear-lamina-associated domains (LADs) define chromatin regions with distinct transcriptional characteristics (fewer, lower-expressed genes, low RNA Pol II occupancy, H3K27me3-enriched borders)
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Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.
PMID 19744334 · PMC2754984 · Journal of translational medicine · 2009 · 8 claims · 8 setups
GJB2 mutations account for 18.31% (52/284) of patients with nonsyndromic hearing loss
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A golden age of brain exploration.
PMID 15660159 · PMC544547 · PLoS biology · 2005 · 8 claims · 3 setups
Over 99% of neuroscience literature focuses on only 1% of the ~15,000–16,000 genes expressed in the brain, leaving most brain-expressed genes uncharacterized.
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Satellog: a database for the identification and prioritization of satellite repeats in disease association studies.
PMID 15949044 · PMC1181805 · BMC bioinformatics · 2005 · 7 claims · 6 setups
Satellog is a database cataloging all pure 1-16 unit satellite repeats in the human genome with supplementary polymorphism, gene-location, and expression data for prioritizing repeats in disease-association studies.
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Glucocorticoid resistance in a multiple myeloma cell line is regulated by a transcription elongation block in the glucocorticoid receptor gene (NR3C1).
PMID 19133980 · PMC4303606 · British journal of haematology · 2009 · 7 claims · 6 setups
Downregulation of GR mRNA in the resistant myeloma cell line is caused by a block to transcriptional elongation within intron B of the GR gene
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Genome-wide prioritization of disease genes and identification of disease-disease associations from an integrated human functional linkage network.
PMID 19728866 · PMC2768980 · Genome biology · 2009 · 6 claims · 6 setups
Integrating 16 genomic features (32 sub-features) via a naïve Bayes classifier produces a genome-scale FLN of 21,657 human genes and 22,388,609 weighted links that outperforms any individual data source for inferring functional linkages.
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Ensembl 2008.
PMID 18000006 · PMC2238821 · Nucleic acids research · 2008 · 8 claims · 6 setups
The Ensembl regulatory build integrates multiple genome-wide functional genomics datasets to automatically annotate regulatory regions and assign putative functions across the genome.
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Using ESTs to improve the accuracy of de novo gene prediction.
PMID 16817966 · PMC1534067 · BMC bioinformatics · 2006 · 8 claims · 8 setups
TWINSCAN_EST combines EST alignments with TWINSCAN via a trainable 'ESTseq' representation and improves exact gene structure prediction accuracy on the whole C. elegans genome
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Has reproduction · 95
OptiType: precision HLA typing from next-generation sequencing data.
PMID 25143287 · PMC4441069 · Bioinformatics (Oxford, England) · 2014 · 8 claims · 8 setups
OptiType, an ILP-based HLA genotyping algorithm, produces accurate four-digit HLA-I predictions from NGS data not enriched for the HLA cluster.