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 robust approach to identifying tissue-specific gene expression regulatory variants using personalized human induced pluripotent stem cells.
PMID 19911041 · PMC2766639 · PLoS genetics · 2009 · 8 claims · 7 setups
Padlock probes combined with high-throughput sequencing enable accurate, quantitative, low-bias digital RNA allelotyping of allele-specific expression
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PPC: an algorithm for accurate estimation of SNP allele frequencies in small equimolar pools of DNA using data from high density microarrays.
PMID 16199750 · PMC1240117 · Nucleic acids research · 2005 · 7 claims · 6 setups
The PPC algorithm, which applies a probe-pair-specific second-degree polynomial correction, increases the accuracy of allele frequency estimates from pooled DNA compared with previously described algorithms
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SNP identification in unamplified human genomic DNA with gold nanoparticle probes.
PMID 15659576 · PMC548375 · Nucleic acids research · 2005 · 8 claims · 5 setups
A microarray-based method allows multiplex SNP genotyping in total human genomic DNA without target amplification or complexity reduction
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Enrichment of sequencing targets from the human genome by solution hybridization.
PMID 19835619 · PMC2784331 · Genome biology · 2009 · 8 claims · 5 setups
Solution hybridization with 120-mer capture probes efficiently enriches targeted genomic sequences for next-generation sequencing
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Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay.
PMID 18036208 · PMC2253505 · BMC medical genetics · 2007 · 7 claims · 3 setups
Improved short, non-overlapping TaqMan MGB probes accurately and simultaneously discriminate the H63D, S65C and C282Y HFE polymorphisms without cross-interference between the closely spaced codon 63/65 SNPs.
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SNP500Cancer: a public resource for sequence validation, assay development, and frequency analysis for genetic variation in candidate genes.
PMID 16381944 · PMC1347513 · Nucleic acids research · 2006 · 7 claims · 4 setups
SNP500Cancer provides sequence and genotype assay information for candidate cancer-related SNPs to support molecular epidemiology and complex disease mapping studies
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PathogenMIPer: a tool for the design of molecular inversion probes to detect multiple pathogens.
PMID 17105657 · PMC1657037 · BMC bioinformatics · 2006 · 6 claims · 5 setups
PathogenMIPer designs unique, target-specific MIP probes, assembling all probe components (target-specific sequences, barcodes, universal primers, restriction sites) into ready-to-order probes for any genome.
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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
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Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.
PMID 16319823 · PMC1477589 · European journal of human genetics : EJHG · 2006 · 7 claims · 8 setups
ALX4 and MSX2 mutations contribute approximately equally to PFM/CB and cause skull defects that are usually clinically indistinguishable
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Has reproduction · 50
DNA Methylation Directs Polycomb-Dependent 3D Genome Re-organization in Naive Pluripotency.
PMID 31722211 · PMC6856714 · Cell reports · 2019 · 7 claims · 6 setups
The altered 3D genome of 2i-cultured ESCs (chromatin decompaction and loss of polycomb interactions at polycomb targets) is due to redistribution of polycomb away from its targets.
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A well-conserved Plasmodium falciparum var gene shows an unusual stage-specific transcript pattern.
PMID 12787360 · PMC2869446 · Molecular microbiology · 2003 · 8 claims · 8 setups
Full-length var transcripts (detected by the complex var exon 2 probe) are present only in ring stages, not in pigmented trophozoites, across multiple parasite lines
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Evaluating the performance of Affymetrix SNP Array 6.0 platform with 400 Japanese individuals.
PMID 18803882 · PMC2566316 · BMC genomics · 2008 · 8 claims · 5 setups
About 20% of the 909,622 SNPs on the SNP Array 6.0 are monomorphic in the Japanese population
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Interaction of vitamin D receptor with HLA DRB1 0301 in type 1 diabetes patients from North India.
PMID 19956544 · PMC2780726 · PloS one · 2009 · 8 claims · 6 setups
Interaction between VDR and HLA alleles is mediated by a VDRE present in the promoter region of HLA-DRB1*0301, which may be detrimental in the absence of 1,25-(OH)2D3 in early childhood.
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Has reproduction · 85
Colocalization and potential interactions of Endozoicomonas and chlamydiae in microbial aggregates of the coral Pocillopora acuta.
PMID 37196086 · PMC11809670 · Science advances · 2023 · 8 claims · 8 setups
CAMAs are located in the epidermis of the tentacle tips of P. acuta polyps
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Loss of heterozygosity at the 5,10-methylenetetrahydrofolate reductase locus in human ovarian carcinomas.
PMID 9099956 · PMC2222800 · British journal of cancer · 1997 · 8 claims · 7 setups
No sequence mutations were found in the MTHFR gene in ovarian tumors and cell lines despite extensive SSCP screening
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A pre-S gene chip to detect pre-S deletions in hepatitis B virus large surface antigen as a predictive marker for hepatoma risk in chronic hepatitis B virus carriers.
PMID 19751529 · PMC2755474 · Journal of biomedical science · 2009 · 8 claims · 5 setups
Pre-S1 and pre-S2 deletion mutants of the HBV LHBS gene are highly associated with HBV-related HCC
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Detection of YMDD motif mutants by oligonucleotide chips in lamivudine-untreated patients with chronic hepatitis B virus infection.
PMID 15308845 · PMC2816888 · Journal of Korean medical science · 2004 · 6 claims · 5 setups
An oligonucleotide chip was developed using probes for wild-type YMDD, M552V, and three M552I probe variants to detect HBV polymerase YMDD motif mutations
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BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families.
PMID 16417652 · PMC1413985 · Breast cancer research : BCR · 2006 · 8 claims · 7 setups
BOADICEA predicts accurately the number of BRCA1 and BRCA2 mutations across family groups and discriminates well between carriers and noncarriers
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Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies.
PMID 16254605 · PMC1270012 · PLoS genetics · 2005 · 8 claims · 6 setups
Comparative net alignment of human and chimpanzee genome assemblies identifies 1,576 putative inverted regions covering more than 154 Mb of DNA
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Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).
PMID 18644145 · PMC2492855 · BMC medical genetics · 2008 · 8 claims · 6 setups
Pathogenic REEP1 mutations were identified in 4.3% (7/162) of autosomal dominant 'pure' HSP cases