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 as a potential predictive factor of response to chemotherapy: feasibility of p53 assessment using a functional test in yeast from trucut biopsies in breast cancer patients.
PMID 11875738 · PMC2375302 · British journal of cancer · 2002 · 8 claims · 6 setups
p53 status can be reliably determined by yeast functional assay from single frozen sections of trucut biopsies
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Analyses of apoptotic regulators CASP9 and DFFA at 1P36.2, reveal rare allele variants in human neuroblastoma tumours.
PMID 11870543 · PMC2375272 · British journal of cancer · 2002 · 8 claims · 5 setups
DFFA is localized within the 1p36.2-3 smallest region of overlap (SRO) of deletions defined in Scandinavian neuroblastoma tumours, distal to marker D1S244
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Getting positive about selection.
PMID 12914654 · PMC193638 · Genome biology · 2003 · 8 claims · 4 setups
Purifying selection is the predominant form of molecular evolution, preserving fitness by eliminating deleterious mutations, while positive selection is rare but critical for adaptation.
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Development of an integrated genome informatics, data management and workflow infrastructure: a toolbox for the study of complex disease genetics.
PMID 15601538 · PMC3525068 · Human genomics · 2004 · 8 claims · 8 setups
An integrated system combining Ensembl, ACeDB, Gbrowse and custom relational databases provides a scalable genome informatics and workflow infrastructure for complex disease gene discovery.
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A genome annotation-driven approach to cloning the human ORFeome.
PMID 15461802 · PMC545604 · Genome biology · 2004 · 8 claims · 8 setups
Existing human cDNA clone collections together provide only 60% coverage of full-length chromosome 22 ORFs, with the best single collection (MGC) providing 48%
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Genetic analysis of pathways regulated by the von Hippel-Lindau tumor suppressor in Caenorhabditis elegans.
PMID 15361934 · PMC515368 · PLoS biology · 2004 · 7 claims · 8 setups
The HIF-1/VHL-1/EGL-9 hydroxylase pathway is tightly conserved in C. elegans
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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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Bisulfite sequencing of chromatin immunoprecipitated DNA (BisChIP-seq) directly informs methylation status of histone-modified DNA.
PMID 22466171 · PMC3371705 · Genome research · 2012 · 8 claims · 8 setups
BisChIP-seq — bisulfite sequencing of chromatin immunoprecipitated DNA — enables direct genome-wide, base-resolution interrogation of DNA methylation on histone-modified DNA molecules
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Combined subtractive cDNA cloning and array CGH: an efficient approach for identification of overexpressed genes in DNA amplicons.
PMID 15018647 · PMC365025 · BMC genomics · 2004 · 8 claims · 8 setups
Combined SSH subtractive cloning and array CGH is an efficient strategy to identify overexpressed genes located within DNA amplicons.
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Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP).
PMID 15018634 · PMC356914 · BMC medical genetics · 2004 · 6 claims · 7 setups
MRF-SSCP method (using combined restriction digestion plus SSCP with silver staining) was developed to screen PKD1 mutations in full-length cDNA fractionated into nine overlapping nested-PCR segments
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X-linked severe combined immunodeficiency syndrome: the first Korean case with gamma c chain gene mutation and subsequent genetic counseling.
PMID 14966353 · PMC2822247 · Journal of Korean medical science · 2004 · 8 claims · 7 setups
The patient's X-SCID is caused by a C690T point mutation in exon 5 of the γc chain gene, producing an R226C amino acid substitution.
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Molecular variants of the ATM gene in Hodgkin's disease in children.
PMID 14735203 · PMC2409549 · British journal of cancer · 2004 · 8 claims · 4 setups
Missense variants of the ATM gene occur in childhood Hodgkin lymphoma but at low frequency (9%), and thus do not play a major role in oncogenesis of the disease
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Germline truncating mutations in both MSH2 and BRCA2 in a single kindred.
PMID 14735197 · PMC2409581 · British journal of cancer · 2004 · 8 claims · 8 setups
Kindred MON1080 carries germline truncating mutations in both MSH2 and BRCA2, with two family members being double heterozygotes
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Classification of real and pseudo microRNA precursors using local structure-sequence features and support vector machine.
PMID 16381612 · PMC1360673 · BMC bioinformatics · 2005 · 7 claims · 7 setups
A 32-dimensional triplet structure-sequence feature vector combined with SVM (triplet-SVM) can distinguish real human pre-miRNAs from pseudo pre-miRNA hairpins with ~90% accuracy.
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Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus.
PMID 16361827 · PMC2779314 · Journal of Korean medical science · 2005 · 8 claims · 5 setups
The patient carries a compound heterozygous missense mutation in AQP2: A70D (exon 1, paternal) and R187H (exon 3, maternal)
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Introduction of in vitro transcribed ENO1 mRNA into neuroblastoma cells induces cell death.
PMID 16359544 · PMC1327688 · BMC cancer · 2005 · 8 claims · 6 setups
ENO1 has tumour suppressor activity
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Allele quantification using molecular inversion probes (MIP).
PMID 16314297 · PMC1301601 · Nucleic acids research · 2005 · 8 claims · 5 setups
MIP technology at high multiplex (>20,000 SNPs) can provide copy number measurements while simultaneously obtaining allele information
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Expression analysis of candidate breast tumour suppressor genes on chromosome 16q.
PMID 16280054 · PMC1410740 · Breast cancer research : BCR · 2005 · 8 claims · 7 setups
None of the six candidate genes (CBFA2T3, TERF2, TERF2IP, FBXL8, LRRC29, FANCA) showed inactivating mutations or expression differences clearly associated with 16q LOH status
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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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SNPdetector: a software tool for sensitive and accurate SNP detection.
PMID 16261194 · PMC1274293 · PLoS computational biology · 2005 · 7 claims · 7 setups
SNPdetector, which models human visual inspection of sequencing traces, achieves low false positive and false negative rates in automated SNP and mutation detection