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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BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression.
PMID 18497862 · PMC2375115 · PLoS genetics · 2008 · 8 claims · 6 setups
BRCA1 and BRCA2 pathogenic mutation carriers have similar post-irradiation LCL gene expression profiles to each other, more so than to BRCAX samples without an LCS variant
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Comparing whole genomes using DNA microarrays.
PMID 18347592 · PMC7097741 · Nature reviews. Genetics · 2008 · 8 claims · 6 setups
DNA microarrays offer a relatively inexpensive and efficient alternative to genome sequencing for comparing all known classes of genomic diversity between closely related genomes.
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SpliceMiner: a high-throughput database implementation of the NCBI Evidence Viewer for microarray splice variant analysis.
PMID 17338820 · PMC1839109 · BMC bioinformatics · 2007 · 6 claims · 4 setups
EVDB is a comprehensive, non-redundant relational database of known human splice variants built from NCBI Entrez Gene and Evidence Viewer data
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Has reproduction · 45
Accurate sequence variant genotyping in cattle using variation-aware genome graphs.
PMID 31092189 · PMC6521551 · Genetics, selection, evolution : GSE · 2019 · 8 claims · 7 setups
Graphtyper outperformed GATK and SAMtools in genotype concordance, non-reference sensitivity, and non-reference discrepancy compared to microarray genotypes
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Toxicogenomics research consortium sails into uncharted waters.
PMID 12460811 · PMC1241122 · Environmental health perspectives · 2002 · 8 claims · 8 setups
The NIEHS-funded $37 million Toxicogenomics Research Consortium (TRC) combines the NIEHS Microarray Center with five academic institutions (UNC, Duke, Fred Hutchinson/UW, MIT, OHSU) to define genetic variability, set gene expression standards, and study environmental stress responses.
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Exome sequencing of a multigenerational human pedigree.
PMID 20011588 · PMC2788131 · PloS one · 2009 · 8 claims · 6 setups
Microarray-based exome capture combined with 454 GS FLX NGS is an efficient and reliable method to enrich for chromosomal regions of interest, validated on eight individuals from a three-generation pedigree
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Has reproduction · 93
DNA binding analysis of rare variants in homeodomains reveals homeodomain specificity-determining residues.
PMID 38600112 · PMC11006913 · Nature communications · 2024 · 8 claims · 5 setups
Many of the 92 assayed HD missense variants alter DNA binding affinity and/or specificity compared to their corresponding reference alleles
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Has reproduction · 67
Integrative analyses reveal signaling pathways underlying familial breast cancer susceptibility.
PMID 26969729 · PMC4812528 · Molecular systems biology · 2016 · 7 claims · 6 setups
Cell adhesion (cell-cell and cell-ECM) pathways are significantly and consistently dysregulated in women who develop familial breast cancer across multiple omic data types and tissues.
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Expanding the vision of environmental health at UNC-CH.
PMID 15248304 · PMC1247395 · Environmental health perspectives · 2004 · 8 claims · 8 setups
Human breast tumors arise from at least two distinct cell types, basal and luminal epithelial, with different clinical behavior
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Population genomics of human gene expression.
PMID 17873874 · PMC2683249 · Nature genetics · 2007 · 8 claims · 8 setups
Gene expression levels in lymphoblastoid cell lines are a heritable trait
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Enrichment of sequencing targets from the human genome by solution hybridization.
PMID 19835619 · PMC2784331 · Genome biology · 2009 · 8 claims · 5 setups
Solution hybridization with 120-mer capture probes efficiently enriches targeted genomic sequences for next-generation sequencing
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Has reproduction · 84
An NMF-Based Methodology for Selecting Biomarkers in the Landscape of Genes of Heterogeneous Cancer-Associated Fibroblast Populations.
PMID 32425511 · PMC7218276 · Bioinformatics and biology insights · 2020 · 8 claims · 6 setups
An integrated methodology combining nonnegative matrix factorization (NMF), the WebGestalt functional enrichment tool, and an ad hoc gene extraction procedure automatically identifies informative gene subsets from microarray data matrices that differ in number of genes (rows) and patients (columns)
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Has reproduction · 92
Similarities and Differences in Gene Expression Networks Between the Breast Cancer Cell Line Michigan Cancer Foundation-7 and Invasive Human Breast Cancer Tissues.
PMID 34056582 · PMC8155268 · Frontiers in artificial intelligence · 2021 · 8 claims · 6 setups
MCF-7 cell lines and human breast cancer tissues show only minimal similarity in biological processes, though some fundamental functions like cell cycle are conserved.
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High resolution analysis of the human transcriptome: detection of extensive alternative splicing independent of transcriptional activity.
PMID 19804644 · PMC2768739 · BMC genetics · 2009 · 8 claims · 6 setups
The human GWSA uses exon body and exon-exon junction probes to directly measure over 280,000 known and predicted splicing events genome-wide.
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Has reproduction · 84
Expression Atlas update--a database of gene and transcript expression from microarray- and sequencing-based functional genomics experiments.
PMID 24304889 · PMC3964963 · Nucleic acids research · 2014 · 8 claims · 6 setups
Expression Atlas is a value-added database providing gene, protein and splice variant expression across cell types, organism parts, developmental stages, diseases and other biological/experimental conditions, built from manually curated high-quality microarray and RNA-sequencing experiments from ArrayExpress.
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Has reproduction · 64
Nimbus: a design-driven analyses suite for amplicon-based NGS data.
PMID 29538618 · PMC6084620 · Bioinformatics (Oxford, England) · 2018 · 7 claims · 4 setups
Nimbus is an end-to-end software suite for amplicon-based NGS data that tracks source amplicons through alignment and variant calling, with tools for trimming, alignment, SNP/InDel calling, QC and visualization.
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Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.
PMID 18977788 · PMC2743849 · The British journal of ophthalmology · 2009 · 7 claims · 5 setups
ABCA4 carrier-frequency-based prevalence estimates of arSTGD (1:1000 and 1:870) are substantially higher than the previously reported phenotypic prevalence of 1:10,000
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Has reproduction · 82
Landscape of allele-specific transcription factor binding in the human genome.
PMID 33980847 · PMC8115691 · Nature communications · 2021 · 8 claims · 6 setups
A novel statistical framework (ADASTRA) calls allele-specific TF binding from existing ChIP-Seq alignments by jointly correcting for background allelic dosage (BAD, from aneuploidy/CNVs) and reference mapping bias.
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Genome Wide Association Studies: identifying the genes that determine the risk of abdominal aortic aneurysm.
PMID 18621558 · PMC2697027 · European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery · 2008 · 8 claims · 3 setups
AAA has a strong genetic component, with up to ten-fold increased risk in first-degree relatives of affected individuals
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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.