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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Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?
PMID 15287992 · PMC509248 · BMC medical genetics · 2004 · 8 claims · 7 setups
A CF-causing second mutation (c.3199del6 or the novel c.3395insA) was found in cis with p.I148T in all CF patients in this cohort who carried p.I148T
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A high throughput method for genome-wide analysis of retroviral integration.
PMID 17028098 · PMC1636494 · Nucleic acids research · 2006 · 8 claims · 8 setups
VITA uses MmeI to cleave DNA at a fixed distance from its recognition site, generating 21-22 bp genomic tags that serve as signatures of lentiviral integration sites.
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Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.
PMID 16319823 · PMC1477589 · European journal of human genetics : EJHG · 2006 · 7 claims · 8 setups
ALX4 and MSX2 mutations contribute approximately equally to PFM/CB and cause skull defects that are usually clinically indistinguishable
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Tags for labeling protein N-termini with subtiligase for proteomics.
PMID 18762420 · PMC2590642 · Bioorganic & medicinal chemistry letters · 2008 · 6 claims · 4 setups
Arginine-rich peptide esters (3, 4, 5) are markedly more soluble than the original TEVest2 ester (1) and give significantly higher N-terminal tagging of proteins by subtiligase at higher concentrations.
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BRCA1 mutations in Algerian breast cancer patients: high frequency in young, sporadic cases.
PMID 18645608 · PMC2452980 · International journal of medical sciences · 2008 · 8 claims · 5 setups
BRCA1 mutations occur at unusually high frequency in young sporadic Algerian breast cancer cases (9.8%) compared to Western populations
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Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects.
PMID 19858129 · PMC3030964 · Journal of medical genetics · 2010 · 7 claims · 5 setups
Two unrelated PHP-I families each include at least one patient with a Gsα coding mutation (PHP-Ia) and another with GNAS imprinting defects (PHP-Ib)
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NeMeSys: a biological resource for narrowing the gap between sequence and function in the human pathogen Neisseria meningitidis.
PMID 19818133 · PMC2784325 · Genome biology · 2009 · 8 claims · 5 setups
Determined and manually annotated the complete genome sequence of N. meningitidis clinical isolate strain 8013
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Alu-mediated RNA duplexes are associated with widespread exon skipping across primate transcriptomes.
PMID 41882679 · PMC13019944 · Genome biology · 2026 · 8 claims · 7 setups
The majority of long-range intronic RNA duplexes detected genome-wide are mediated by inverted Alu-repeat elements.
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Detection of large deletions in the LDL receptor gene with quantitative PCR methods.
PMID 15842735 · PMC1087844 · BMC medical genetics · 2005 · 7 claims · 3 setups
MLPA was cheaper, more accurate and more precise than Real-Time PCR for detecting LDL receptor gene deletions
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Has reproduction · 99
A haplotype-resolved genome assembly of the bocaccio rockfish, Sebastes paucispinis.
PMID 40323688 · PMC12584591 · The Journal of heredity · 2025 · 6 claims · 8 setups
This paper presents the first de novo, haplotype-resolved reference-quality genome assembly of Sebastes paucispinis (bocaccio rockfish).
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Has reproduction · 93
Protocol for assessing regulatory elements in murine heart using an AAV9-based massively parallel reporter assay.
PMID 40252222 · PMC12033988 · STAR protocols · 2025 · 8 claims · 5 setups
An AAV9-based in vivo MPRA (AAV-MPRA) workflow, combined with a companion informatics platform, can dissect and quantify enhancer activity in mouse heart.
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Cohesin regulates alternative splicing.
PMID 36857449 · PMC9977177 · Science advances · 2023 · 7 claims · 8 setups
Cohesin regulates alternative splicing independently of its effects on transcription.
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Has reproduction · 84
Chemical reversible crosslinking enables measurement of RNA 3D distances and alternative conformations in cells.
PMID 35177610 · PMC8854666 · Nature communications · 2022 · 8 claims · 7 setups
SHARC uses chemical crosslinkers of defined lengths to measure distances between nucleotides in cellular RNA
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BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families.
PMID 16417652 · PMC1413985 · Breast cancer research : BCR · 2006 · 8 claims · 7 setups
BOADICEA predicts accurately the number of BRCA1 and BRCA2 mutations across family groups and discriminates well between carriers and noncarriers
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Description of a PCR-based technique for DNA splicing and mutagenesis by producing 5' overhangs with run through stop DNA synthesis utilizing Ara-C.
PMID 16137330 · PMC1208860 · BMC biotechnology · 2005 · 7 claims · 7 setups
Two adjacent Ara-C molecules incorporated into a PCR primer produce mild template-dependent polymerization termination, generating 5' overhangs usable for cohesive-end ligation.
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Multiplex amplification enabled by selective circularization of large sets of genomic DNA fragments.
PMID 15860768 · PMC1087789 · Nucleic acids research · 2005 · 8 claims · 4 setups
Selector oligonucleotides can circularize many distinct genomic restriction fragments in one reaction, enabling parallel amplification with a single universal primer pair instead of multiple target-specific primer pairs
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Diversity of tRNA genes in eukaryotes.
PMID 17088292 · PMC1693877 · Nucleic acids research · 2006 · 8 claims · 6 setups
The number of tRNA genes having the same anticodon but different sequences elsewhere (isodecoder genes) varies significantly (10–246) across 11 eukaryotes despite isoacceptor numbers being similar (41–55)
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Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.
PMID 17076561 · PMC1626556 · PLoS medicine · 2006 · 6 claims · 7 setups
Affected members of a previously genetically unsolved aHUS family carry a heterozygous CFH/CFHL1 hybrid gene (exons 1-21 from CFH, exons 22/23 from CFHL1)
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An investigation of polymorphisms in the 17q11.2-12 CC chemokine gene cluster for association with multiple sclerosis in Australians.
PMID 16872505 · PMC1550395 · BMC medical genetics · 2006 · 7 claims · 7 setups
Marginally significant (uncorrected) transmission distortion was found for four SNPs after stratification by HLA-DRB1*1501 status, disease course, or gender.
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Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy.
PMID 16764716 · PMC1586026 · BMC cancer · 2006 · 8 claims · 6 setups
The 9106C>T (Q2960X) and IVS16-2A>G BRCA2 mutations are recurrent in MBC families from North-East Italy and may reflect a founder effect.