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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Differential analysis for high density tiling microarray data.
PMID 17892592 · PMC2231405 · BMC bioinformatics · 2007 · 8 claims · 6 setups
gSAM, a generalized extension of Significance Analysis of Microarrays (SAM), uses a piece-wise function to segment genome-wide differential response by protein-coding vs non-coding regions and by 5' vs 3' vs intra-genic bias within genes, rather than treating a gene as an atomic unit.
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Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes.
PMID 17672902 · PMC1950089 · BMC medical genetics · 2007 · 8 claims · 6 setups
The major APOE haplotype (Hap1) is significantly associated with SAH
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The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene.
PMID 17449949 · PMC2693607 · Journal of Korean medical science · 2007 · 7 claims · 5 setups
This is the first reported Korean case of Beare-Stevenson syndrome.
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A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.
PMID 19093007 · PMC2603185 · Molecular vision · 2008 · 7 claims · 5 setups
A novel mutation (1666 A>G, exon 15, S556R) in BBS7 causes BBS in this Chinese family
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p16 mutation spectrum in the premalignant condition Barrett's esophagus.
PMID 19043591 · PMC2585012 · PloS one · 2008 · 8 claims · 6 setups
44 of 304 Barrett's esophagus patients (14.5%) had p16 mutations (47 total mutations), with a spectrum consistent with oxidative damage and chronic inflammation
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A highly polymorphic insertion in the Y-chromosome amelogenin gene can be used for evolutionary biology, population genetics and sexing in Cetacea and Artiodactyla.
PMID 18925953 · PMC2580767 · BMC genetics · 2008 · 8 claims · 6 setups
A 460–465 bp insertion is present in intron 4 of the Amel-Y locus in most Cetartiodactyla lineages (cetaceans and ruminants) but absent in pig
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High-density SNP genotyping to define beta-globin locus haplotypes.
PMID 18829352 · PMC4251776 · Blood cells, molecules & diseases · 2009 · 8 claims · 5 setups
RFLP analysis lacks sufficient site density/coverage to accurately reflect the genomic complexity of the β-locus
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Neurofibrillary tau pathology modulated by genetic variation of alpha-synuclein.
PMID 18661559 · PMC8957216 · Annals of neurology · 2008 · 7 claims · 5 setups
The SNCA intron 4 marker rs2572324 is associated with the extent of neurofibrillary tangle (Braak stage) pathology.
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Methylation of class II transactivator gene promoter IV is not associated with susceptibility to multiple sclerosis.
PMID 18606010 · PMC2464579 · BMC medical genetics · 2008 · 6 claims · 4 setups
Methylation of the MHC2TA promoter pIV is not associated with MS susceptibility; no methylation was detected in any twin sample regardless of disease status
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Identification of PSEN1 and APP gene mutations in Korean patients with early-onset Alzheimer's disease.
PMID 18437002 · PMC2526428 · Journal of Korean medical science · 2008 · 6 claims · 6 setups
Two different PSEN1 mutations (G206S and M233T) were identified in Korean EOAD patients
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Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family.
PMID 18400097 · PMC2322962 · BMC medical genetics · 2008 · 7 claims · 5 setups
A novel heterozygous/homozygous KCNQ1 mutation, T322M (C965T, exon 7), was identified in a Chinese family with both RWS and JLNS
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A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.
PMID 19728872 · PMC2745377 · BMC medical genetics · 2009 · 8 claims · 7 setups
A novel homozygous missense mutation, c.1922G>A (p.Arg641His), in MANBA was identified in a patient with severe neurological disease featuring pyramidal and cerebellar involvement, a phenotype not previously reported in β-mannosidosis.
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Sequence variation of PfEMP1-DBLalpha in association with rosette formation in Plasmodium falciparum isolates causing severe and uncomplicated malaria.
PMID 19650937 · PMC3224928 · Malaria journal · 2009 · 8 claims · 5 setups
Sequence group 1 (mainly from uncomplicated malaria) is significantly different in distribution from sequence group 3 (mainly from severe malaria)
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A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy.
PMID 19649163 · PMC2718742 · Molecular vision · 2009 · 7 claims · 7 setups
A novel heterozygous UBIAD1 mutation, G98S, was identified in two affected members (proband and her father) of a Chinese SCCD family.
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Single-cell sequencing reveals unexpected genetic diversity among Bodo spp. flagellates and their bacterial endosymbionts.
PMID 41848149 · PMC12999062 · Microbial genomics · 2026 · 8 claims · 8 setups
Seven single-cell genomes assembled from uncultured environmental Bodo cells represent three potentially novel Bodo species
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Segmental copy number amplifications are more stable than aneuploidies in the absence of selection.
PMID 41968576 · PMC13107562 · Molecular biology and evolution · 2026 · 8 claims · 6 setups
Segmental amplifications are stable in the absence of selection, whereas aneuploidies are rapidly lost and revert to single-copy genotype
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Rapid detection of allele loss in colorectal tumours using microsatellites and fluorescent DNA technology.
PMID 8512811 · PMC1968523 · British journal of cancer · 1993 · 6 claims · 3 setups
Fluorescently labelled microsatellite PCR products analysed on an automated DNA sequencer allow rapid, automated quantitation (peak size, height, area) of allele loss, avoiding drawbacks of radioactive RFLP analysis.
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VirPipe: an easy-to-use and customizable pipeline for detecting viral genomes from Nanopore sequencing.
PMID 37129547 · PMC10191607 · Bioinformatics (Oxford, England) · 2023 · 8 claims · 1 setups
VirPipe is a new bioinformatics pipeline for detecting viral genomes from Nanopore or Illumina sequencing input with streamlined installation and customization.
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Multiple K-ras mutations in hyperplasia and carcinoma in cases of human pancreatic carcinoma.
PMID 10543256 · PMC5926143 · Japanese journal of cancer research : Gann · 1999 · 7 claims · 6 setups
K-ras codon 12 mutations are present in the majority of solid-type (85%) and ductectatic-type (73%) pancreatic carcinomas.
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Large-scale discovery and validation of functional elements in the human genome.
PMID 15774039 · PMC1088940 · Genome biology · 2005 · 8 claims · 8 setups
Genome-wide tiling microarray hybridization reveals large, diverse sets of transcripts, many of which lack existing gene annotations