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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Computational tradeoffs in multiplex PCR assay design for SNP genotyping.
PMID 16042802 · PMC1190169 · BMC genomics · 2005 · 7 claims · 6 setups
Achieving high-multiplexing/high-coverage multiplex PCR designs is subject to a computational phase transition as the SNP-pair compatibility probability crosses a critical threshold
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Involvement of the modifier gene of a human Mendelian disorder in a negative selection process.
PMID 19888326 · PMC2765618 · PloS one · 2009 · 7 claims · 4 setups
The frequency of SAA1 alpha/alpha homozygotes is much higher among Armenian FMF patients (24%) than Karabakhian FMF patients (4%)
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Eighth major clade for hepatitis delta virus.
PMID 17073101 · PMC3294742 · Emerging infectious diseases · 2006 · 7 claims · 7 setups
Three HDV isolates (dFr644, dFr2072, dFr2736) form a monophyletic group distinct from HDV-1 through HDV-7, constituting a new eighth major clade (HDV-8) of the Deltavirus genus.
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A missense mutation in LIM2 causes autosomal recessive congenital cataract.
PMID 18596884 · PMC2442473 · Molecular vision · 2008 · 7 claims · 5 setups
A homozygous missense mutation (Gly154Glu, c.587G>A) in LIM2 causes autosomal recessive congenital cataract in a human family
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Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.
PMID 20057908 · PMC2802296 · Molecular vision · 2009 · 8 claims · 4 setups
Mutations in CYP1B1 are a major cause of PCG in the studied patient cohort
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Genomic variability within an organism exposes its cell lineage tree.
PMID 16261192 · PMC1274291 · PLoS computational biology · 2005 · 8 claims · 5 setups
Somatic mutations accumulated during normal development implicitly encode an organism's entire cell lineage tree with very high precision.
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Shotgun haplotyping: a novel method for surveying allelic sequence variation.
PMID 16221968 · PMC1253838 · Nucleic acids research · 2005 · 8 claims · 7 setups
A novel shotgun haplotyping method generates haplotypic sequences from long PCR products by shotgun sequencing both alleles concurrently and using read-pair information to separate alleles during assembly
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The fate of the duplicated androgen receptor in fishes: a late neofunctionalization event?
PMID 19094205 · PMC2637867 · BMC evolutionary biology · 2008 · 8 claims · 4 setups
AR was duplicated into two paralogs, AR-A and AR-B, during a teleost-specific whole genome duplication (WGD), after the split of Acipenseriformes but before the divergence of Osteoglossiformes.
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New generic primer system targeting mucosal/genital and cutaneous human papillomaviruses leads to the characterization of HPV 115, a novel Beta-papillomavirus species 3.
PMID 19948351 · PMC2813930 · Virology · 2010 · 8 claims · 8 setups
The new CUT primer system detects a broader range of HPV genera/species and novel putative types than the FAP primer system (p<0.01)
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Predicting failure rate of PCR in large genomes.
PMID 18492719 · PMC2441781 · Nucleic acids research · 2008 · 7 claims · 8 setups
The number of predicted primer-binding sites in genomic DNA is the most important factor determining PCR failure.
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The genomic analysis of lactic acidosis and acidosis response in human cancers.
PMID 19057672 · PMC2585811 · PLoS genetics · 2008 · 8 claims · 8 setups
Lactic acidosis and hypoxia induce largely distinct gene expression programs in HMECs, with lactic acidosis producing a much larger and more dramatic response
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Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.
PMID 18948357 · PMC3044481 · Journal of medical genetics · 2009 · 8 claims · 6 setups
TGM1 germline mutations were identified in 55% (57/104) of patients with ARCI
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HLA-A gene polymorphism defined by high-resolution sequence-based typing in 161 Northern Chinese Han people.
PMID 15629059 · PMC5172246 · Genomics, proteomics & bioinformatics · 2003 · 7 claims · 5 setups
HLA-A gene shows high polymorphism in the Northern Chinese Han population, with 74 gene types and 36 alleles detected in 161 individuals
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A novel polymorphism in the 1A promoter region of the vitamin D receptor is associated with altered susceptibilty and prognosis in malignant melanoma.
PMID 15238985 · PMC2364794 · British journal of cancer · 2004 · 7 claims · 6 setups
A novel A-1012G (adenine-guanine) polymorphism exists in the VDR exon 1a promoter region, identified by SSCP screening and sequencing
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Mitochondrial localization and function of a subset of 22q11 deletion syndrome candidate genes.
PMID 18775783 · PMC2729512 · Molecular and cellular neurosciences · 2008 · 8 claims · 8 setups
Six 22q11 genes (Mrpl40, Prodh, Slc25a1, Txnrd2, T10, Zdhhc8) encode proteins that localize to mitochondria, including neuronal/synaptic mitochondria.
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Therapy effect of either paclitaxel or cyclophosphamide combination treatment in patients with epithelial ovarian cancer and relation to TP53 gene status.
PMID 9703286 · PMC2063030 · British journal of cancer · 1998 · 6 claims · 4 setups
Paclitaxel/cisplatin therapy produces a higher positive response rate than cyclophosphamide/cisplatin therapy in advanced ovarian cancer
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Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene.
PMID 16429166 · PMC1342637 · PLoS genetics · 2005 · 8 claims · 5 setups
PANTHER subPSEC scores correctly predicted the functional impact of >94% (16/17) of tested naturally occurring ABCA1 variants
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Prediction and assessment of splicing alterations: implications for clinical testing.
PMID 18951448 · PMC2832470 · Human mutation · 2008 · 8 claims · 5 setups
Bioinformatic prediction alone is insufficient; in vitro analysis is needed to confirm or establish splicing aberrations for clinical variant classification
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Decreased expression of the Id3 gene at 1p36.1 in ovarian adenocarcinomas.
PMID 11161400 · PMC2363740 · British journal of cancer · 2001 · 7 claims · 7 setups
Id3 mRNA and protein expression are decreased in ovarian cancer cell lines compared to immortalized HOSE cells
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In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.
PMID 16995940 · PMC1590028 · BMC genomics · 2006 · 8 claims · 6 setups
In silico ESE-prediction algorithms (ESEfinder, RescueESE, PESX) do not reliably predict actual in vivo splicing behavior of missense mutations