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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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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IMGT, the international ImMunoGeneTics information system.
PMID 15608269 · PMC540019 · Nucleic acids research · 2005 · 8 claims · 6 setups
IMGT is a high-quality integrated knowledge resource for immunoglobulins (IG), T cell receptors (TR), MHC, and related proteins of the immune system (RPI) across vertebrate species
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Genetic diversity of clinical isolates of Bacillus cereus using multilocus sequence typing.
PMID 18990211 · PMC2585095 · BMC microbiology · 2008 · 8 claims · 7 setups
The 55 clinical B. cereus isolates were phylogenetically diverse, comprising 38 sequence types (STs) distributed across two of three previously described clades.
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The genetics of regulatory variation in the human genome.
PMID 16004727 · PMC3525257 · Human genomics · 2005 · 8 claims · 7 setups
Naturally-occurring gene expression variation among individuals is common across species (yeast, Drosophila, mouse, fish, maize, primates, humans) and has a significant genetic component.
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Non-imprinted allele-specific DNA methylation on human autosomes.
PMID 19958531 · PMC2812945 · Genome biology · 2009 · 8 claims · 7 setups
SNPs within CpG islands are associated with allele-specific DNA methylation differences between alleles.
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The role of X-chromosome inactivation in female predisposition to autoimmunity.
PMID 11056674 · PMC17816 · Arthritis research · 2000 · 6 claims · 2 setups
Skewed X-chromosome inactivation in the thymus could lead to inadequate thymic deletion of T cells reactive to X-linked polymorphic self-antigens, predisposing to autoimmunity
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Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia.
PMID 19818657 · PMC2818284 · Blood cells, molecules & diseases · 2010 · 8 claims · 5 setups
Common TMPRSS6 polymorphisms (K253E, V736A) are not risk factors for iron deficiency anemia in the general population
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Has reproduction · 84
Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.
PMID 35296718 · PMC8927422 · Scientific reports · 2022 · 8 claims · 8 setups
Four FBN1-negative patients from three families with a MASS-like phenotype carry likely pathogenic or uncertain-significance missense variants in the propeptide-coding regions of COL2A1
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Has reproduction · 75
Allele-specific immune gene quantification and expression analysis in single-cell RNA-seq data.
PMID 41229397 · PMC12604667 · NAR genomics and bioinformatics · 2025 · 8 claims · 4 setups
scIGD is a Snakemake workflow that automates HLA allele-typing and allele-specific expression quantification from scRNA-seq data
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Relation of candidate genes that encode for endothelial function to migraine and stroke: the Stroke Prevention in Young Women study.
PMID 19661472 · PMC2753702 · Stroke · 2009 · 8 claims · 6 setups
EDN SNP rs1800542 is associated with increased ischemic stroke risk in Caucasian women
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DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity.
PMID 18254956 · PMC2270804 · BMC medical genetics · 2008 · 8 claims · 5 setups
Three LOXL1 SNPs previously associated with pseudoexfoliation in Nordic populations are significantly associated with pseudoexfoliation syndrome and pseudoexfoliation glaucoma in a U.S. ethnically diverse population
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The origins of lactase persistence in Europe.
PMID 19714206 · PMC2722739 · PLoS computational biology · 2009 · 8 claims · 5 setups
The −13,910*T allele first underwent selection among dairying farmers around 7,500 years ago in a region between the central Balkans and central Europe, possibly linked to the Linearbandkeramik culture.
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A SNP-centric database for the investigation of the human genome.
PMID 15046636 · PMC395999 · BMC bioinformatics · 2004 · 8 claims · 3 setups
SNPper is a web-based, integrated SNP database combining dbSNP, the Human Genome sequence (Goldenpath), LocusLink, GeneOntology, and SWISS-PROT data with querying, visualization, and export tools.
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Sequence diversity within the HA-1 gene as detected by melting temperature assay without oligonucleotide probes.
PMID 16202172 · PMC1260020 · BMC medical genetics · 2005 · 8 claims · 3 setups
HA-1 allele and genotype frequencies were determined in 131 unrelated Italian subjects (HA-1H=0.43, HA-1R=0.57), consistent with Hardy-Weinberg equilibrium and prior North American Caucasian data.
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HaploSNPer: a web-based allele and SNP detection tool.
PMID 18307806 · PMC2288614 · BMC genetics · 2008 · 6 claims · 2 setups
HaploSNPer is a web-based tool integrating BLASTN, CAP3/PHRAP, and QualitySNP into a single pipeline for allele and SNP detection from diploid and polyploid species
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Tissue plasminogen activator and plasminogen activator inhibitor type 1 gene polymorphism in patients with gastric ulcer complicated with bleeding.
PMID 12589088 · PMC3054991 · Journal of Korean medical science · 2003 · 6 claims · 5 setups
The t-PA I/D or D/D genotype is significantly associated with duodenal (vs gastric) ulcer location
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Genome-wide survey of allele-specific splicing in humans.
PMID 18518984 · PMC2427040 · BMC genomics · 2008 · 8 claims · 5 setups
A genome-wide computational scan identified 30,977 SNPs located within predicted splicing regulatory sequences (donor sites, acceptor sites, branch points, and ESEs)
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Lack of significant association of an insertion/deletion polymorphism in the angiotensin converting enzyme (ACE) gene with tropical calcific pancreatitis.
PMID 17163998 · PMC1762011 · BMC gastroenterology · 2006 · 7 claims · 2 setups
The ACE I/D polymorphism shows no significant association with TCP or FCPD pathogenesis, fibrosis, or progression
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Has reproduction · 75
Dynamic reversal of random X-Chromosome inactivation during iPSC reprogramming.
PMID 31515287 · PMC6771397 · Genome research · 2019 · 7 claims · 6 setups
XCR during iPSC reprogramming is hierarchical, with distinct subsets of X-linked genes reactivating early, intermediate, late, and very late
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Variants in the estrogen receptor alpha gene and its mRNA contribute to risk for schizophrenia.
PMID 18424448 · PMC2465798 · Human molecular genetics · 2008 · 8 claims · 8 setups
Genotype CC (rs2234693/PvuII) and C-allele-containing haplotypes in ESR1 intron 1 are more frequent in African American schizophrenics than controls