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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Analysis of protein sequence and interaction data for candidate disease gene prediction.
PMID 17020920 · PMC1636487 · Nucleic acids research · 2006 · 8 claims · 7 setups
Combining CPS and CMP using known disease genes as input achieves sensitivity 0.52 and specificity 0.97, reducing candidate lists 13-fold
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Spinocerebellar ataxia type 23: a genetic update.
PMID 19089525 · PMC2694919 · Cerebellum (London, England) · 2009 · 8 claims · 6 setups
The SCA23 disease locus maps to chromosome 20p13-12.3, spanning ~6 Mb and containing 97 known/predicted genes.
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TranspoGene and microTranspoGene: transposed elements influence on the transcriptome of seven vertebrates and invertebrates.
PMID 17986453 · PMC2238949 · Nucleic acids research · 2008 · 8 claims · 5 setups
TranspoGene catalogs TEs within protein-coding genes of seven species (human, mouse, chicken, zebrafish, fruit fly, nematode, sea squirt), classified as proximal promoter, exonized, exonic, or intronic TEs.
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Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.
PMID 18510646 · PMC2689154 · Annals of human genetics · 2008 · 7 claims · 5 setups
Direct sequencing of 43 candidate genes in 7 Spanish arRP families identified 244 sequence variants (76 novel), none pathogenic, excluding these genes as disease-causing.
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Has reproduction · 100
Proneural-mesenchymal antagonism dominates the patterns of phenotypic heterogeneity in glioblastoma.
PMID 38433919 · PMC10905000 · iScience · 2024 · 8 claims · 8 setups
The four proposed GBM molecular subtypes (Proneural, Neural, Classical, Mesenchymal / NPC-like, OPC-like, AC-like, MES-like) are not mutually exclusive or independent of one another
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AUGUSTUS at EGASP: using EST, protein and genomic alignments for improved gene prediction in the human genome.
PMID 16925833 · PMC1810548 · Genome biology · 2006 · 8 claims · 5 setups
AUGUSTUS predicted significantly more genes correctly than any other ab initio program in EGASP
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Predicting candidate genes for human deafness disorders: a bioinformatics approach.
PMID 16854223 · PMC1564145 · BMC genomics · 2006 · 8 claims · 4 setups
A bioinformatic approach combining expression databases and protein interaction data narrows ~2400 candidate genes across deafness loci to a manageable set of candidates.
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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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Endotoxin-tolerant mice have mutations in Toll-like receptor 4 (Tlr4).
PMID 9989976 · PMC2192941 · The Journal of experimental medicine · 1999 · 8 claims · 8 setups
The Lps locus was fine-mapped to a 0.9-cM interval spanning a 1.7-Mb genomic contig on mouse chromosome 4.
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Comparative genomics search for losses of long-established genes on the human lineage.
PMID 18085818 · PMC2134963 · PLoS computational biology · 2007 · 8 claims · 6 setups
A novel comparative genomics method (TransMap-based syntenic mapping of gene structures between human, mouse, and dog) can detect losses of well-established single-copy genes without relying on sequence homology to a parental gene, distinguishing them from typical duplication- or retrotransposition-derived pseudogenes.
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Cardiovascular genomics, personalized medicine, and the National Heart, Lung, and Blood Institute: part I: the beginning of an era.
PMID 20031542 · PMC3097376 · Circulation. Cardiovascular genetics · 2008 · 7 claims · 8 setups
Rare Mendelian mutations (e.g., in sarcomere genes, ion channels, FBN1, LMNA) cause specific rare cardiovascular conditions (hypertrophic/dilated cardiomyopathy, long-QT syndrome, thoracic aortic aneurysm, progeria) but explain little of common CVD risk.
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Immunopathogenic interaction of environmental triggers and genetic susceptibility in diabetes: is epigenetics the missing link?
PMID 19033405 · PMC2584121 · Diabetes · 2008 · 8 claims · 3 setups
Epigenetic modification of histones and DNA provides a plausible common mechanism linking environmental triggers to genetic susceptibility regions in autoimmune type 1 diabetes.
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A functional map of NFkappaB signaling identifies novel modulators and multiple system controls.
PMID 17553156 · PMC2394752 · Genome biology · 2007 · 8 claims · 6 setups
154 positive and 88 negative modulators of NFκB signaling were identified from genomic screens
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The future is genome-wide.
PMID 16934105 · PMC1779592 · Genome biology · 2006 · 8 claims · 8 setups
Noncoding SNPs near NRG1 associated with schizophrenia likely act by influencing NRG1 expression level
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Prevalence of the congenital long-QT syndrome.
PMID 19841298 · PMC2784143 · Circulation · 2009 · 7 claims · 6 setups
The prevalence of LQTS among Caucasian apparently healthy live-births is at least 1:2,534 (95% CI 1:1,583-1:4,350)
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Has reproduction · 74
Genetic architecture of natural variation of cardiac performance from flies to humans.
PMID 36383075 · PMC9668334 · eLife · 2022 · 8 claims · 7 setups
Natural genetic variation significantly influences cardiac performance traits (rhythmicity and contractility) across 167 DGRP lines
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The excess of 5' introns in eukaryotic genomes.
PMID 16314314 · PMC1292992 · Nucleic acids research · 2005 · 7 claims · 4 setups
All 21 eukaryotic genomes studied show a statistically significant 5′-biased distribution of introns in protein-coding genes
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Conserved elements with potential to form polymorphic G-quadruplex structures in the first intron of human genes.
PMID 18187510 · PMC2275096 · Nucleic acids research · 2008 · 8 claims · 6 setups
G-richness downstream of the TSS is strand-biased, concentrated on the nontemplate strand, with a peak at +200 to +300 bp
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Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.
PMID 18808722 · PMC2570672 · BMC medical genetics · 2008 · 8 claims · 7 setups
LQTS-associated mutations were identified in 8 of 112 families studied
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Has reproduction · 61
TEMP: a computational method for analyzing transposable element polymorphism in populations.
PMID 24753423 · PMC4066757 · Nucleic acids research · 2014 · 8 claims · 8 setups
TEMP combines pair-end (discordant) read and split (soft-clipped) read information to identify both presence and absence of TE insertions in genomic DNA from heterogeneous/pooled samples.