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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p53 mutations in cervical carcinogenesis--low frequency and lack of correlation with human papillomavirus status.
PMID 8142262 · PMC1968818 · British journal of cancer · 1994 · 7 claims · 6 setups
Somatic mutation in the p53 gene hotspot regions occurs infrequently in cervical carcinomas
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Molecular genetic evidence for unifocal origin of advanced epithelial ovarian cancer and for minor clonal divergence.
PMID 7577492 · PMC2033953 · British journal of cancer · 1995 · 7 claims · 4 setups
LOH analysis has higher sensitivity than DNA flow cytometry for detecting unifocal origin of bilateral ovarian tumors
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Screening of the Fc epsilon RI-beta-gene in a Swiss population of asthmatic children: no association with E237G and identification of new sequence variations.
PMID 10427478 · PMC3851081 · Disease markers · 1998 · 8 claims · 6 setups
E237G shows no significant association with atopy or asthma in the Swiss population (3.7% in patients vs 2.6% in controls)
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Mechanisms of relapse in acute leukaemia: involvement of p53 mutated subclones in disease progression in acute lymphoblastic leukaemia.
PMID 10098750 · PMC2362216 · British journal of cancer · 1999 · 6 claims · 4 setups
p53 mutations are detected at relapse far more frequently in ALL (28.6%) than in AML (7.3%)
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Prevalence of BRCA1 in a hospital-based population of Dutch breast cancer patients.
PMID 10952774 · PMC2363536 · British journal of cancer · 2000 · 8 claims · 5 setups
The estimated prevalence of BRCA1 mutations in the general Dutch breast cancer population is 2.1%
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Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing.
PMID 11710958 · PMC59832 · BMC genetics · 2001 · 7 claims · 6 setups
DHPLC screening combined with direct sequencing detects likely disease-causative point mutations in the dystrophin gene missed by multiplexed PCR deletion/duplication testing
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Has reproduction · 85
Digital sorting of complex tissues for cell type-specific gene expression profiles.
PMID 23497278 · PMC3626856 · BMC bioinformatics · 2013 · 8 claims · 8 setups
The Digital Sorting Algorithm (DSA) deconvolves mixed tissue expression into cell type-specific profiles using only marker genes, without requiring prior knowledge of cell type frequencies or in vitro pure-cell profiles.
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Genetic variants of Ehrlichia phagocytophila, Rhode Island and Connecticut.
PMID 11996680 · PMC3369764 · Emerging infectious diseases · 2002 · 7 claims · 6 setups
All 50 E. phagocytophila-positive samples from Bridgeport, CT (1996-1998) had 16S rRNA sequences identical to the human agent (EP-ha).
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Reduced 5-FU clearance in a patient with low DPD activity due to heterozygosity for a mutant allele of the DPYD gene.
PMID 11953843 · PMC2364178 · British journal of cancer · 2002 · 7 claims · 5 setups
Heterozygosity for the IVS14+1G>A DPYD splice-site mutation is associated with markedly reduced 5-FU clearance and severe 5-FU toxicity in the index patient.
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Sequencing of 16S rRNA gene: a rapid tool for identification of Bacillus anthracis.
PMID 12396926 · PMC2730316 · Emerging infectious diseases · 2002 · 7 claims · 4 setups
All 86 B. anthracis isolates tested share an identical 16S rRNA gene sequence, designated 16S type 6
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Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report.
PMID 12839625 · PMC166146 · BMC neurology · 2003 · 8 claims · 7 setups
The patient is a compound heterozygote with a different splicing mutation in each Perlecan allele, causing a significant reduction in production of the normal (wild-type) protein.
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Optimal step length EM algorithm (OSLEM) for the estimation of haplotype frequency and its application in lipoprotein lipase genotyping.
PMID 12529185 · PMC149347 · BMC bioinformatics · 2003 · 5 claims · 4 setups
OSLEM (Optimal Step Length EM), which approximates an optimal step length via a fixed-point search (D_N = D_{N-1} + λ(D_preN - D_{N-1})), runs about twice as fast as standard EM while producing the same haplotype frequency estimates.
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Development of a fluorescent multiplex assay for detection of MSI-High tumors.
PMID 15528789 · PMC3839403 · Disease markers · 2004 · 8 claims · 7 setups
Mononucleotide markers are the most sensitive and specific microsatellite marker type for detecting MSI-H tumors with MMR defects
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TP73 allelic expression in human brain and allele frequencies in Alzheimer's disease.
PMID 15175114 · PMC420466 · BMC medical genetics · 2004 · 8 claims · 6 setups
A -386G/A SNP in the TP73 P3 promoter is weakly but significantly associated with AD risk in a tri-ethnic elderly population.
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Diet and DNA.
PMID 15174456 · PMC1315985 · Environmental health perspectives · 2004 · 8 claims · 8 setups
The tombusvirus CIRV p19 protein selectively binds short (21-22 nt) silencing siRNAs, using tryptophan residues Trp39 and Trp42 as molecular 'calipers' that stack with the ends of the siRNA duplex
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Molecular epidemiology of DFNB1 deafness in France.
PMID 15070423 · PMC385234 · BMC medical genetics · 2004 · 8 claims · 7 setups
35delG remains the most common pathogenic GJB2 mutation in the studied French (Languedoc Roussillon) population despite being less frequent than in other Mediterranean populations
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Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer.
PMID 14970868 · PMC2410159 · British journal of cancer · 2004 · 7 claims · 5 setups
A large fraction of high-risk individuals in mutation-positive HNPCC families does not undergo genetic testing despite its benefits.
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Polymorphism in the tumour necrosis factor receptor II gene is associated with circulating levels of soluble tumour necrosis factor receptors in rheumatoid arthritis.
PMID 16277675 · PMC1297570 · Arthritis research & therapy · 2005 · 8 claims · 6 setups
The TNF-RII T676G polymorphism is associated with circulating levels of sTNF-RI and sTNF-RII in RA, with a trend TT > TG > GG
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A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.
PMID 15953877 · PMC2782211 · Journal of Korean medical science · 2005 · 7 claims · 8 setups
The patient is a compound heterozygote for two SLC37A4 mutations: c.1042_1043delCT (L348fs) and c.443C>T (A148V)
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Pigs in sequence space: a 0.66X coverage pig genome survey based on shotgun sequencing.
PMID 15885146 · PMC1142312 · BMC genomics · 2005 · 8 claims · 7 setups
Pig sequence is closer to human than mouse is, across exons, UTRs, introns, intergenic regions, ultra-conserved elements, and miRNAs