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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Has reproduction · 82
Landscape of allele-specific transcription factor binding in the human genome.
PMID 33980847 · PMC8115691 · Nature communications · 2021 · 8 claims · 6 setups
A novel statistical framework (ADASTRA) calls allele-specific TF binding from existing ChIP-Seq alignments by jointly correcting for background allelic dosage (BAD, from aneuploidy/CNVs) and reference mapping bias.
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HLA-A gene polymorphism defined by high-resolution sequence-based typing in 161 Northern Chinese Han people.
PMID 15629059 · PMC5172246 · Genomics, proteomics & bioinformatics · 2003 · 7 claims · 5 setups
HLA-A gene shows high polymorphism in the Northern Chinese Han population, with 74 gene types and 36 alleles detected in 161 individuals
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Mosaicism in von Hippel-Lindau disease: an event important to recognize.
PMID 18205710 · PMC4401302 · Journal of cellular and molecular medicine · 2007 · 7 claims · 5 setups
The proband's father is a somatic mosaic for a VHL missense mutation (R161Q), explaining his mild, late-onset phenotype compared to his daughter's severe early-onset disease.
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Oncogene mutations, copy number gains and mutant allele specific imbalance (MASI) frequently occur together in tumor cells.
PMID 19826477 · PMC2757721 · PloS one · 2009 · 8 claims · 8 setups
Homozygous mutations of oncogenes are frequent (20%) across 833 cancer cell lines of 12 tumor types in the Sanger database
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Molecular epidemiology of O139 Vibrio cholerae: mutation, lateral gene transfer, and founder flush.
PMID 12890320 · PMC3023423 · Emerging infectious diseases · 2003 · 8 claims · 4 setups
Lateral gene transfer (LGT) produced roughly three times as many nucleotide changes as point mutation among the 96 O139 isolates.
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Coxiella burnetii genotyping.
PMID 16102309 · PMC3320512 · Emerging infectious diseases · 2005 · 8 claims · 5 setups
Multispacer sequence typing (MST) is the first reliable method for typing Coxiella burnetii isolates
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Relationships between emm and multilocus sequence types within a global collection of Streptococcus pyogenes.
PMID 18405369 · PMC2359762 · BMC microbiology · 2008 · 8 claims · 5 setups
emm type is often a poor marker for clonal genetic background across the global S. pyogenes collection
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MLST clustering of Campylobacter jejuni isolates from patients with gastroenteritis, reactive arthritis and Guillain-Barré syndrome.
PMID 19702866 · PMC3985121 · Journal of applied microbiology · 2010 · 8 claims · 4 setups
Danish C. jejuni isolates from gastroenteritis, RA and GBS patients are highly genetically diverse, comprising 51 STs within 18 clonal complexes among 122 isolates.
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Epigenetics and phenotypic variation in mammals.
PMID 16688527 · PMC3906716 · Mammalian genome : official journal of the International Mammalian Genome Society · 2006 · 8 claims · 8 setups
Epigenetic modifications are mitotically heritable, but the fidelity of meiotic/transgenerational inheritance in mammals is poorly understood and evidence in mammals is scanty.
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Common genomic features of Campylobacter jejuni subsp. doylei strains distinguish them from C. jejuni subsp. jejuni.
PMID 17535437 · PMC1892558 · BMC microbiology · 2007 · 8 claims · 6 setups
Cjd strains are phylogenetically distinct from Cjj strains based on MLST and CGI analysis
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DNA methylation of cancer genome.
PMID 19960550 · PMC2940836 · Birth defects research. Part C, Embryo today : reviews · 2009 · 8 claims · 7 setups
Cancer epigenome alterations fall into two main categories: hypermethylation of tumor suppressor genes and hypomethylation of oncogenes or heterochromatin.
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Directionality of point mutation and 5-methylcytosine deamination rates in the chimpanzee genome.
PMID 17166280 · PMC1764022 · BMC genomics · 2006 · 8 claims · 6 setups
C→T (G→A) changes occur most frequently among nucleotide substitutions in the chimpanzee genome
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Designing candidate gene and genome-wide case-control association studies.
PMID 17947991 · PMC4180089 · Nature protocols · 2007 · 8 claims · 4 setups
Common complex diseases are influenced by multiple genetic and environmental factors that individually are neither necessary nor sufficient to cause disease
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Epidemiology of doublet/multiplet mutations in lung cancers: evidence that a subset arises by chronocoordinate events.
PMID 19005564 · PMC2579325 · PloS one · 2008 · 8 claims · 7 setups
Doublet mutations are significantly more frequent in EGFR (6.0%) and TP53 (2.3%) in human lung cancer than spontaneous doublets in mouse lacI (0.7%), about 8-fold and 3-fold higher respectively.
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Diversity of the parB and repA genes of the Burkholderia cepacia complex and their utility for rapid identification of Burkholderia cenocepacia.
PMID 18328098 · PMC2324101 · BMC microbiology · 2008 · 8 claims · 7 setups
repA sequences show distinct clustering of B. cenocepacia relative to other Bcc species, enabling design of a species-specific multiplex PCR
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Variation analysis and gene annotation of eight MHC haplotypes: the MHC Haplotype Project.
PMID 18193213 · PMC2206249 · Immunogenetics · 2008 · 8 claims · 6 setups
Comparison of eight HLA-homozygous MHC haplotype sequences identified >44,000 variations (substitutions and indels), submitted to dbSNP
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The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.
PMID 19926015 · PMC2880864 · Journal of the American College of Cardiology · 2009 · 8 claims · 6 setups
Comprehensive open-reading-frame RYR2 mutational analysis reveals possible CPVT1 mutations located outside the three canonical hot-spot domains
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Has reproduction · 79
Contribution of retrotransposition to developmental disorders.
PMID 31604926 · PMC6789007 · Nature communications · 2019 · 8 claims · 6 setups
De novo retrotransposition events cause a small but detectable fraction of severe developmental disorders, with 4 of 9 de novo MEIs deemed likely causative (~0.04%).
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Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs.
PMID 16111488 · PMC1208866 · BMC cancer · 2005 · 8 claims · 4 setups
15 of 89 nsSNPs (16.9%) studied were predicted to abolish or create phosphorylation sites in 14 of 32 proteins (44.0%)
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Short tandem repeat sequences in the Mycoplasma genitalium genome and their use in a multilocus genotyping system.
PMID 18664269 · PMC2515158 · BMC microbiology · 2008 · 8 claims · 7 setups
18 STR loci (1-5 base repeat units, copy number 4-26) were identified in the M. genitalium G37 genome via bioinformatics analysis.