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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High-throughput discovery of rare human nucleotide polymorphisms by Ecotilling.
PMID 16893952 · PMC1540726 · Nucleic acids research · 2006 · 7 claims · 6 setups
Ecotilling can be adapted to accurately discover and genotype human SNPs, with error rates low relative to resequencing
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Analysis of copy number variation using quantitative interspecies competitive PCR.
PMID 18697816 · PMC2553599 · Nucleic acids research · 2008 · 7 claims · 6 setups
qicPCR uses the entire genome of a single chimpanzee as a competitor, requiring only one reference sample for all assays and enabling large-scale multiplexing
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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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Ethnic differences and functional analysis of MET mutations in lung cancer.
PMID 19723643 · PMC2767337 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 7 setups
MET mutations identified in lung tumors are predominantly germline rather than somatic
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Functional features of gene expression profiles differentiating gastrointestinal stromal tumours according to KIT mutations and expression.
PMID 19943934 · PMC2794290 · BMC cancer · 2009 · 8 claims · 5 setups
Hundreds of genes differentiate GISTs according to KIT versus PDGFRA mutation and expression status, despite no discriminative profile for clinical/pathological parameters.
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A clinical genetic method to identify mechanisms by which pain causes depression and anxiety.
PMID 16623937 · PMC1488826 · Molecular pain · 2006 · 8 claims · 4 setups
Pain-triggered depression/anxiety are mediated by distinct spino-parabrachial-hypothalamic-amygdalar neurochemical pathways compared to mood disorders independent of pain
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The minisequencing method: a simple strategy for genetic screening of MEN 2 families.
PMID 12042015 · PMC116428 · BMC genetics · 2002 · 6 claims · 4 setups
Minisequencing reproduces the same mutation information obtained by direct sequencing of PCR products at RET codons 634 and 918 in all tested MEN 2 family members.
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Comprehensive search for intra- and inter-specific sequence polymorphisms among coding envelope genes of retroviral origin found in the human genome: genes and pseudogenes.
PMID 16150157 · PMC1236922 · BMC genomics · 2005 · 8 claims · 5 setups
HERV-W (envW) and HERV-FRD (envFRD) envelope genes, both specifically expressed in placenta, show strong sequence conservation with only two nonsynonymous SNPs identified across 91 individuals
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Rapid detection of SMARCB1 sequence variation using high resolution melting.
PMID 20003390 · PMC2801682 · BMC cancer · 2009 · 8 claims · 6 setups
HRM screening of SMARCB1 amplicons has a zero false negative rate compared to direct sequencing
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Genomic and mutational profiling to assess clonal relationships between multiple non-small cell lung cancers.
PMID 19671847 · PMC2892178 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 5 setups
Genomic profiling by aCGH can distinguish clonal tumors from independent primaries with high confidence by identifying matching versus non-matching regions of allelic gain/loss.
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Adequate use of allele frequencies in Hispanics--a problem elucidated in nephrotic syndrome.
PMID 19876656 · PMC2899680 · Pediatric nephrology (Berlin, Germany) · 2010 · 7 claims · 3 setups
Self-identified Hispanic SRNS patients in the USA are genetically heterogeneous, being of either Caucasian or Mesoamerican (Native-American) descent
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Dinucleotide repeat polymorphism in Fms-like tyrosine kinase-1 (Flt-1) gene is not associated with preeclampsia.
PMID 18631405 · PMC2496902 · BMC medical genetics · 2008 · 7 claims · 2 setups
The Flt-1 d(TG)n repeat polymorphism is not associated with the development of preeclampsia in Korean pregnant women
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Genetic analysis of MEFV gene pyrin domain in patients with Behçet's disease.
PMID 16951489 · PMC1592598 · Mediators of inflammation · 2006 · 6 claims · 2 setups
No deletion, insertion, or point mutations were found in the pyrin domain of the MEFV gene in any of the 54 Turkish BD patients analyzed.
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Screening of dystrophin gene deletions in Egyptian patients with DMD/BMD muscular dystrophies.
PMID 11381192 · PMC3851408 · Disease markers · 2000 · 6 claims · 5 setups
Multiplex PCR screening of 18 dystrophin exons detected deletions in 55% of 100 Egyptian DMD/BMD families
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Unusual linkage patterns of ligands and their cognate receptors indicate a novel reason for non-random gene order in the human genome.
PMID 16277660 · PMC1309615 · BMC evolutionary biology · 2005 · 8 claims · 5 setups
Ligands are not more closely linked (shorter physical distance) to their cognate receptors than expected by chance
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Evaluation of multiple displacement amplification in a 5 cM STR genome-wide scan.
PMID 16055919 · PMC1182175 · Nucleic acids research · 2005 · 7 claims · 5 setups
MDA genotyping call rates and accuracy are only marginally lower than for genomic DNA
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Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort.
PMID 16824219 · PMC1534050 · BMC neurology · 2006 · 7 claims · 5 setups
The C282Y variant allele of HFE is significantly overrepresented in PD patients compared to controls, suggesting it confers higher risk for PD
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The brain-derived neurotrophic factor rs6265 (Val66Met) polymorphism and depression in Mexican-Americans.
PMID 17632285 · PMC2686836 · Neuroreport · 2007 · 7 claims · 4 setups
BDNF SNP rs6265 (Val66Met) is significantly associated with diagnosis of major depression in Mexican-Americans
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Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families.
PMID 17603881 · PMC1924843 · BMC medical genetics · 2007 · 7 claims · 4 setups
Ten recurrent/founder mutations (5 in BRCA1, 5 in BRCA2, including the newly observed BRCA2 c.5374-5377delTATG) account for approximately 50% of BRCA1/2 mutations identified in Spanish families
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A novel procedure for genotyping of single nucleotide polymorphisms in trisomy with genomic DNA and the invader assay.
PMID 18940863 · PMC2602776 · Nucleic acids research · 2008 · 7 claims · 4 setups
A novel Invader assay-based procedure can accurately determine SNP genotypes in trisomic genomic DNA samples in a simple, cost-effective manner