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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Heteropolymeric triplex-based genomic assay to detect pathogens or single-nucleotide polymorphisms in human genomic samples.
PMID 17375191 · PMC1810429 · PloS one · 2007 · 7 claims · 6 setups
The Genomic Assay can detect 100 copies of Bacillus globigii genomic dsDNA, including in the presence of human genomic dsDNA background, without PCR amplification
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Screening of male breast cancer and of breast-ovarian cancer families for BRCA2 mutations using large bifluorescent amplicons.
PMID 11207042 · PMC2363770 · British journal of cancer · 2001 · 8 claims · 4 setups
FAMA using large bifluorescent amplicons (avg 1.2 kb) with chemical cleavage of mismatch, combined with DGGE for 9 small exons, allows sensitive, unbiased scanning of the entire BRCA2 coding sequence with few amplicons (15 FAMA + 9 DGGE)
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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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VarDetect: a nucleotide sequence variation exploratory tool.
PMID 19091032 · PMC2638149 · BMC bioinformatics · 2008 · 8 claims · 2 setups
VarDetect is a stand-alone software tool that automatically detects nucleotide variation (SNPs) from fluorescence-based chromatogram traces using pre-calculated peak content ratios and artifact-handling rules.
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A method for accurate detection of genomic microdeletions using real-time quantitative PCR.
PMID 16351727 · PMC1327677 · BMC genomics · 2005 · 8 claims · 5 setups
A qPCR method using unique-sequence primers can reproducibly detect chromosomal microdeletions and microduplications
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Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region.
PMID 18226259 · PMC2268926 · BMC genomics · 2008 · 8 claims · 7 setups
GOLGA8E and WHDC1L1 are characterized for the first time as protein-coding transcripts from the PWS proximal breakpoint region.
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Screening of the Fc epsilon RI-beta-gene in a Swiss population of asthmatic children: no association with E237G and identification of new sequence variations.
PMID 10427478 · PMC3851081 · Disease markers · 1998 · 8 claims · 6 setups
E237G shows no significant association with atopy or asthma in the Swiss population (3.7% in patients vs 2.6% in controls)
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Molecular genetics and structural genomics of the human protein kinase C gene module.
PMID 11897026 · PMC88812 · Genome biology · 2002 · 8 claims · 4 setups
The nine human PKC genes are dispersed throughout the genome, with five isotypes (α, β, δ, ζ, ι) previously incorrectly assigned to chromosomes in the literature.
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Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12).
PMID 19929093 · PMC2945731 · The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2009 · 8 claims · 4 setups
The translocation breakpoints disrupt SLC31A1 (intron 1) on chromosome 9 and a predicted gene containing CCL2 (5'UTR/exons) on chromosome 17
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PIK3CA alterations in Middle Eastern ovarian cancers.
PMID 19638206 · PMC2724395 · Molecular cancer · 2009 · 8 claims · 7 setups
PIK3CA gene amplification is frequent in Middle Eastern EOC, found in 54/152 (35.5%) cases
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Detecting imbalanced expression of SNP alleles by minisequencing on microarrays.
PMID 15500681 · PMC529269 · BMC biotechnology · 2004 · 8 claims · 7 setups
Both microarray minisequencing formats accurately quantify SNP allele ratios, with R2 > 0.95 for the majority of regression lines
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The DNA sequence and analysis of human chromosome 13.
PMID 15057823 · PMC2665288 · Nature · 2004 · 8 claims · 8 setups
95.5 Mb of finished sequence from chromosome 13 was completed, containing 633 genes and 296 pseudogenes.
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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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Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions.
PMID 16512914 · PMC1413517 · BMC medical genetics · 2006 · 8 claims · 5 setups
Patient carries a novel 2.3 Mb deletion in 22q11.2 with proximal breakpoint between RH48663/RH48348 and distal breakpoint between D22S1138/SHGC-145314
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Challenges and standards in integrating surveys of structural variation.
PMID 17597783 · PMC2698291 · Nature genetics · 2007 · 7 claims · 5 setups
There is no standard approach to collecting, assessing the quality of, or describing structural variants, risking the entire genome eventually being labeled 'structurally variant' based on uncurated nondisease-sample data.
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Primase-based whole genome amplification.
PMID 18559358 · PMC2490742 · Nucleic acids research · 2008 · 8 claims · 6 setups
A primase-based Whole Genome Amplification (pWGA) method was developed using T7 gp4 primase to synthesize primers on-template, removing the requirement for synthetic primers
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A genome-wide screen for copy number alterations in Aicardi syndrome.
PMID 19760649 · PMC3640635 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups
Aicardi syndrome is thought to result from heterozygous defects in an essential X-linked gene, or from a sex-limited autosomal gene defect, due to its occurrence almost exclusively in females and in 47,XXY males.
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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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Integration of cytogenetic landmarks into the draft sequence of the human genome.
PMID 11237021 · PMC7845515 · Nature · 2001 · 8 claims · 6 setups
7,600 cytogenetically defined landmarks (from a set of 8,877 clones) were placed on the draft sequence of the human genome as a public resource
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Transgenerational inheritance of an acquired small RNA-based antiviral response in C. elegans.
PMID 22119442 · PMC3250924 · Cell · 2011 · 8 claims · 8 setups
viRNA-mediated silencing of the FR1gfp Flock House virus is transmitted to RNAi-deficient (rde-1 or rde-4 homozygous) progeny and persists for many ensuing generations, i.e. an acquired antiviral trait is inherited.