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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Structural organization and interactions of transmembrane domains in tetraspanin proteins.
PMID 15985154 · PMC1190194 · BMC structural biology · 2005 · 8 claims · 5 setups
TM1, TM2 and TM3 of human tetraspanins display a distinct heptad repeat motif (abcdefg)n, while TM4 lacks this motif.
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Finding signals that regulate alternative splicing in the post-genomic era.
PMID 12429065 · PMC244920 · Genome biology · 2002 · 8 claims · 8 setups
Alternative splicing generates protein and regulatory diversity from a limited number of genes and modulates isoform levels in a cell-context-specific manner
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The truth about mouse, human, worms and yeast.
PMID 15601543 · PMC3525071 · Human genomics · 2004 · 8 claims · 8 setups
Comparing genomes in pairs or larger sets (mouse-human, C. elegans-C. briggsae, multiple Saccharomyces, human-pufferfish, etc.) reveals unsuspected genes and helps eliminate false-positive gene predictions
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DNA sequence and analysis of human chromosome 9.
PMID 15164053 · PMC2734081 · Nature · 2004 · 8 claims · 8 setups
The finished euchromatic sequence of chromosome 9 comprises 109,044,351 base pairs, representing >99.6% of the region.
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The dystrobrevin-binding protein 1 gene: features and networks.
PMID 18663367 · PMC2859304 · Molecular psychiatry · 2009 · 8 claims · 6 setups
DTNBP1 gene structure, protein-coding sequence, and dysbindin domain are conserved across 13 vertebrate species, while noncoding sequence is diverse.
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Target SNP selection in complex disease association studies.
PMID 15248903 · PMC487897 · BMC bioinformatics · 2004 · 7 claims · 3 setups
A computational pipeline can retrieve gene sequence, collect SNP variation data, and annotate SNPs falling in functional motifs (promoter, exon-intron structure, AU-rich elements, TF binding sites, splice sites) with expression in target tissue
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The UCSC genome browser database: update 2007.
PMID 17142222 · PMC1669757 · Nucleic acids research · 2007 · 8 claims · 8 setups
The UCSC Genome Browser Database provides sequence and annotation data for 13 vertebrate and 19 invertebrate species as of September 2006.
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Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs.
PMID 16111488 · PMC1208866 · BMC cancer · 2005 · 8 claims · 4 setups
15 of 89 nsSNPs (16.9%) studied were predicted to abolish or create phosphorylation sites in 14 of 32 proteins (44.0%)
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Resequencing PNMT in European hypertensive and normotensive individuals: no common susceptibilily variants for hypertension and purifying selection on intron 1.
PMID 17645789 · PMC1947951 · BMC medical genetics · 2007 · 7 claims · 7 setups
Resequencing of PNMT found no common susceptibility variants that distinguish hypertensive from normotensive individuals
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Has reproduction · 57
Data-driven projections of candidate enhancer-activating SNPs in immune regulation.
PMID 40011812 · PMC11863423 · BMC genomics · 2025 · 7 claims · 7 setups
A data-driven computational protocol combining motif scanning, open-chromatin filtering, gene proximity, dbSNP validation, spacing, and cross-species conservation can prioritize SNPs likely to create functional GAS motifs.
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Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.
PMID 18692127 · PMC3341170 · Genomics · 2008 · 8 claims · 7 setups
Autozygosity mapping identified a highly significant homozygous region on chromosome 13q14.11-q14.3 (Z/LOD=10.41)
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Application of genomics to toxicology research.
PMID 12634120 · PMC1241273 · Environmental health perspectives · 2002 · 8 claims · 3 setups
Toxic chemical exposures alter gene expression, producing a diagnostic transcriptional 'fingerprint' that can be matched against known toxicants to classify untested chemicals' toxic potential.
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Has reproduction · 48
Prediction of Alzheimer's disease-specific phospholipase c gamma-1 SNV by deep learning-based approach for high-throughput screening.
PMID 33397809 · PMC7826347 · Proceedings of the National Academy of Sciences of the United States of America · 2021 · 8 claims · 7 setups
An AD-specific frameshift single-nucleotide insertion in exon 27 of PLCγ1 substitutes isoleucine 970 to asparagine in the 5xFAD AD mouse model.
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CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity.
PMID 15507145 · PMC526769 · BMC medical genetics · 2004 · 8 claims · 7 setups
PCR amplification and sequencing of CLC-2 revealed 1 SNP in the promoter, 4 SNPs in intron 1, and none in exon 20
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Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.
PMID 17052327 · PMC1626071 · BMC medical genetics · 2006 · 8 claims · 8 setups
RSTS is caused by chromosomal microdeletions and point mutations in one copy of CREBBP (16p13.3), consistent with haploinsufficiency of this dosage-sensitive gene
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PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.
PMID 16430766 · PMC1434729 · BMC medical genetics · 2006 · 7 claims · 8 setups
Linkage analysis can pre-select which gene (PKD1 or PKD2) to screen for mutations in ADPKD families with sufficient samples
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F-SNP: computationally predicted functional SNPs for disease association studies.
PMID 17986460 · PMC2238878 · Nucleic acids research · 2008 · 6 claims · 8 setups
F-SNP is a database integrating functional effect predictions for SNPs from 16 bioinformatics tools/databases across four categories: splicing, transcription, translation, and post-translation
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Genes on bovine chromosome 18 associated with bilateral convergent strabismus with exophthalmos in German Brown cattle.
PMID 18836565 · PMC2556974 · Molecular vision · 2008 · 8 claims · 5 setups
Haplotype association analysis refines the BCSE-linked region on BTA18 to a 6.82 Mb interval spanning 56.05–62.87 Mb
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Context dependent function of APPb enhancer identified using enhancer trap-containing BACs as transgenes in zebrafish.
PMID 18832376 · PMC2577333 · Nucleic acids research · 2008 · 8 claims · 6 setups
A novel enhancer trap method retrofitting BACs with Tn10-based transposons enables nontargeted, functional mapping of noncontiguous cis-regulatory elements as zebrafish transgenes.
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In silico comparative genomic analysis of GABAA receptor transcriptional regulation.
PMID 17603907 · PMC1934366 · BMC genomics · 2007 · 8 claims · 8 setups
Previously unreported putative promoters were identified for the β2, γ1, γ3, ε, θ and π GABA A receptor subunit genes