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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Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates.
PMID 1694220 · PMC2188166 · The Journal of experimental medicine · 1990 · 8 claims · 8 setups
Patient 14 (moderate phenotype) carries a C-to-T substitution at nucleotide 517 of the beta subunit cDNA, changing amino acid 149 from leucine to proline
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Effect of read-mapping biases on detecting allele-specific expression from RNA-sequencing data.
PMID 19808877 · PMC2788925 · Bioinformatics (Oxford, England) · 2009 · 8 claims · 6 setups
Reads mapped to the reference genome show a significant bias toward the reference allele at heterozygous SNPs
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Has reproduction · 80
Ancient variation of the AvrPm17 gene in powdery mildew limits the effectiveness of the introgressed rye Pm17 resistance gene in wheat.
PMID 35857869 · PMC9335242 · Proceedings of the National Academy of Sciences of the United States of America · 2022 · 6 claims · 8 setups
AvrPm17 is encoded by a paralogous, tandemly duplicated effector gene pair located in a pericentromeric, mildew sublineage-specific effector cluster (family E003) showing signs of recurring gene conversion.
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Comparative mapping of expressed sequence tags containing microsatellites in rainbow trout (Oncorhynchus mykiss).
PMID 15836796 · PMC1090573 · BMC genomics · 2005 · 8 claims · 7 setups
89 polymorphic microsatellite markers were developed from rainbow trout EST-derived cDNA clones
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AgBase: a functional genomics resource for agriculture.
PMID 16961921 · PMC1618847 · BMC genomics · 2006 · 8 claims · 7 setups
AgBase is a curated, web-accessible database providing structural and functional (GO) annotation for agricultural genomes and their pathogens.
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Novel integrative genomics strategies to identify genes for complex traits.
PMID 16886998 · PMC2367618 · Animal genetics · 2006 · 8 claims · 7 setups
Forward genetics is restricted to genes harboring mutations, systematically missing network genes that causally influence disease without themselves being mutated.
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Integromics: challenges in data integration.
PMID 12186644 · PMC139396 · Genome biology · 2002 · 8 claims · 7 setups
There is no simple solution to database integration in genomics/bioinformatics
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Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling.
PMID 18157127 · PMC2397541 · Nature genetics · 2008 · 8 claims · 8 setups
Homozygous truncating mutations in PCNT cause Seckel syndrome
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Sequence polymorphisms cause many false cis eQTLs.
PMID 17637838 · PMC1906859 · PloS one · 2007 · 8 claims · 7 setups
Many reported local/cis eQTLs are false positives caused by probe-region sequence polymorphisms affecting hybridization rather than true cis-regulatory expression differences.
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Validating discovered Cis-acting regulatory genetic variants: application of an allele specific expression approach to HapMap populations.
PMID 19116668 · PMC2605564 · PloS one · 2008 · 7 claims · 6 setups
ASE is more robust than total gene expression approaches to environmental variation and trans-acting genetic factors, giving a cleaner representation of cis-acting effects.
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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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Mapping proteins to disease terminologies: from UniProt to MeSH.
PMID 18460185 · PMC2367626 · BMC bioinformatics · 2008 · 8 claims · 7 setups
Developed a three-step procedure (disease name extraction, exact matching, partial/similarity-based matching) to map UniProtKB/Swiss-Prot disease names to MeSH terms
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The meso-genomic era.
PMID 11516332 · PMC139414 · Genome biology · 2001 · 8 claims · 8 setups
Linkage disequilibrium (LD) between SNPs extends much further in Northern European populations (~120 kb) than in a Nigerian population (<10 kb), reflecting differing population histories (bottlenecks vs. constant expansion).
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Has reproduction · 58
The Li2 mutation results in reduced subgenome expression bias in elongating fibers of allotetraploid cotton (Gossypium hirsutum L.).
PMID 24598808 · PMC3944810 · PloS one · 2014 · 8 claims · 7 setups
The Li2 mutation significantly reduces subgenome (homeolog) expression bias in the elongating fiber transcriptome.
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Genome-wide location analysis and expression studies reveal a role for p110 CUX1 in the activation of DNA replication genes.
PMID 18003658 · PMC2248751 · Nucleic acids research · 2008 · 8 claims · 8 setups
p110 CUX1 is recruited to promoters of cell cycle-related target genes preferentially during S phase
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Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies.
PMID 17953491 · PMC2039766 · PLoS genetics · 2007 · 8 claims · 5 setups
CNVs are not easily tagged by SNPs and often fall in genomic regions poorly covered by whole-genome SNP arrays or not genotyped by HapMap, so current GWASs have largely missed their contribution to complex disorders.
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Evolutionary toggling of the MAPT 17q21.31 inversion region.
PMID 19165922 · PMC2684794 · Nature genetics · 2008 · 8 claims · 6 setups
The H2 (inverted) orientation is the most likely ancestral great ape/human configuration at 17q21.31
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Has reproduction · 98
Identity rather than 3D position informs splicing of rare introns in the human genome.
PMID 41561379 · PMC12814444 · iScience · 2026 · 8 claims · 7 setups
Splicing efficiency depends on intron identity rather than nuclear (SPAD) position; despite shared SPAD proximity, major-like and minor-like introns are less efficiently spliced than major and minor introns
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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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An intergenic non-coding rRNA correlated with expression of the rRNA and frequency of an rRNA single nucleotide polymorphism in lung cancer cells.
PMID 19838300 · PMC2759515 · PloS one · 2009 · 8 claims · 7 setups
An nc-rRNA is transcribed from the intergenic spacer upstream of the rRNA transcription start site in human lung epithelial and lung cancer cells, spanning roughly -1000 to at least +203/+300.