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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A novel approach for determining cancer genomic breakpoints in the presence of normal DNA.
PMID 17440616 · PMC1847701 · PloS one · 2007 · 8 claims · 6 setups
PAMP enriches deletion-breakpoint-spanning DNA because shorter mutant amplicons are preferentially amplified over much longer wild-type sequences when using approximated flanking primer pairs.
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PrimerStation: a highly specific multiplex genomic PCR primer design server for the human genome.
PMID 16845094 · PMC1538814 · Nucleic acids research · 2006 · 7 claims · 2 setups
Selecting primers using the stringent hybridization ratio (requiring an 'executable temperature' where target hybridization ratio >0.99 and off-target ratio <0.05) yields more specific genomic primers than the conventional melting-temperature-based approach, which only guarantees >0.5 vs <0.5
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NTMG (N-terminal Truncated Mutants Generator for cDNA): an automatic multiplex PCR assays design for generating various N-terminal truncated cDNA mutants.
PMID 17488836 · PMC1933230 · Nucleic acids research · 2007 · 7 claims · 1 setups
NTMG automatically generates forward and reverse PCR primer groups for producing N-terminal truncated cDNA mutants from an input cDNA sequence
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Minisequencing mitochondrial DNA pathogenic mutations.
PMID 18402672 · PMC2377236 · BMC medical genetics · 2008 · 7 claims · 7 setups
A minisequencing multiplex assay can interrogate 25 pathogenic mtDNA mutations across the whole mtDNA genome in a single reaction using 13 amplicons.
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MuPlex: multi-objective multiplex PCR assay design.
PMID 15980531 · PMC1160138 · Nucleic acids research · 2005 · 8 claims · 3 setups
MuPlex is a web-enabled system that designs multiplex PCR assays by selecting primer pairs for SNPs and partitioning them into multiplex-compatible tube sets.
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Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group.
PMID 11044354 · PMC2408797 · British journal of cancer · 2000 · 6 claims · 4 setups
BRCA1 and BRCA2 mutations are rare in the general population and account for only a small fraction of all breast cancer in the UK
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Multiplex SNP typing by bioluminometric assay coupled with terminator incorporation (BATI).
PMID 16141191 · PMC1197137 · Nucleic acids research · 2005 · 8 claims · 6 setups
A novel 'bioluminometric assay coupled with terminator (ddNTP) incorporation' (BATI) platform was developed for multiplex SNP typing in a single reaction chamber.
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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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Competitive enzymatic reaction to control allele-specific extensions.
PMID 15767273 · PMC1065263 · Nucleic acids research · 2005 · 6 claims · 7 setups
Protease-mediated allele-specific extension (PrASE) uses competition between polymerase activity and Proteinase K-mediated polymerase degradation to allow extension of perfectly matched primers while eliminating slower mismatched primer extension.
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Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P).
PMID 16887033 · PMC1559599 · BMC medical genetics · 2006 · 6 claims · 5 setups
A multiplexed suspension bead array (Luminex) assay was developed to genotype 8 Ashkenazi-prevalent disease alleles including GBA c.1448T>C
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Multiplex amplification of all coding sequences within 10 cancer genes by Gene-Collector.
PMID 17317684 · PMC1874629 · Nucleic acids research · 2007 · 7 claims · 7 setups
Gene-Collector is a method for multiplex nucleic acid amplification that specifically circularizes only correctly paired (cognate) PCR primer products on a Collector probe, degrading non-cognate artifacts by exonuclease treatment.
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Pathogenic mitochondrial DNA mutations are common in the general population.
PMID 18674747 · PMC2495064 · American journal of human genetics · 2008 · 7 claims · 6 setups
At least 1 in 200 healthy humans harbors a pathogenic mtDNA mutation with potential to cause disease in offspring of female carriers
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Silhouette scores for assessment of SNP genotype clusters.
PMID 15760469 · PMC555759 · BMC genomics · 2005 · 7 claims · 5 setups
Silhouette scores provide a relevant, objective numeric measure of SNP genotype cluster quality, condensing tightness and separation into a single value from -1.0 to 1.0.
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Multiplexed discovery of sequence polymorphisms using base-specific cleavage and MALDI-TOF MS.
PMID 15731331 · PMC549577 · Nucleic acids research · 2005 · 8 claims · 7 setups
Multiplexed base-specific cleavage/MALDI-TOF MS (Multiplexed Comparative Sequence Analysis) enables simultaneous discovery of sequence polymorphisms across multiple target regions
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Ovarian cancer has frequent loss of heterozygosity at chromosome 12p12.3-13.1 (region of TEL and Kip1 loci) and chromosome 12q23-ter: evidence for two new tumour-suppressor genes.
PMID 9155043 · PMC2228239 · British journal of cancer · 1997 · 8 claims · 4 setups
Two commonly deleted regions on chromosome 12 were identified in ovarian cancer: 12p12.3-13.1 (6/23 samples) and 12q23-ter (7/23 samples)
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Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR.
PMID 15608400 · PMC2816285 · Journal of Korean medical science · 2004 · 7 claims · 6 setups
Developed a reliable quantitative real-time PCR assay using SMN1-specific primers, SYBR Green I dye, and the comparative Ct (ΔΔCt) method, normalized to albumin, to determine SMN1 copy number
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Back to basics.
PMID 12186643 · PMC139395 · Genome biology · 2002 · 8 claims · 8 setups
Human PDS (Pendrin) gene mutations damage ear structures and are linked to hereditary deafness and goiter