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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Genetic determinants of virulence in pathogenic lineage 2 West Nile virus strains.
PMID 18258114 · PMC2600181 · Emerging infectious diseases · 2008 · 8 claims · 7 setups
The nonstructural genes, especially NS5, are the most variable regions between highly and less neuroinvasive lineage 2 WNV strains
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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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A multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation.
PMID 19958498 · PMC2788387 · BMC genomics · 2009 · 8 claims · 4 setups
Comparative homology modeling of wild-type and mutant α-mannosidase across human, cow, cat and guinea pig reveals a significant correlation between genotype severity and phenotype severity in α-mannosidosis
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PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism.
PMID 20035629 · PMC2806268 · BMC medical genetics · 2009 · 8 claims · 7 setups
All UK vCJD cases tested (147/147) are methionine homozygous (MM) at PRNP codon 129
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A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction.
PMID 19956411 · PMC2786888 · Molecular vision · 2009 · 6 claims · 7 setups
A novel de novo heterozygous nonsense mutation (c.413C>G, p.S138X) in OTX2 causes an early onset retinal dystrophy accompanied by pituitary dysfunction (growth hormone deficiency)
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Technical challenges in using human induced pluripotent stem cells to model disease.
PMID 19951687 · PMC2921621 · Cell stem cell · 2009 · 8 claims · 8 setups
hiPSCs generated from patient somatic cells (skin, blood) can be differentiated into disease-relevant cell types to model disease pathogenesis in vitro
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New generic primer system targeting mucosal/genital and cutaneous human papillomaviruses leads to the characterization of HPV 115, a novel Beta-papillomavirus species 3.
PMID 19948351 · PMC2813930 · Virology · 2010 · 8 claims · 8 setups
The new CUT primer system detects a broader range of HPV genera/species and novel putative types than the FAP primer system (p<0.01)
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Construction of a high-resolution genetic linkage map and comparative genome analysis for the reef-building coral Acropora millepora.
PMID 19900279 · PMC3091320 · Genome biology · 2009 · 8 claims · 6 setups
This is the first genetic linkage map constructed for any coral species or any non-Bilaterian animal
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Comparative analysis of plant genomes allows the definition of the "Phytolongins": a novel non-SNARE longin domain protein family.
PMID 19889231 · PMC2779197 · BMC genomics · 2009 · 8 claims · 6 setups
A novel, plant-specific family of longin-related proteins, the 'Phytolongins', was identified in land plant genomes.
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Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.
PMID 19881469 · PMC4511341 · Journal of human genetics · 2009 · 8 claims · 6 setups
Screening all 72 exons of USH2A (long isoform) identifies significantly more mutations than screening only the short-isoform exons 1-21
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A new procedure for determining the genetic basis of a physiological process in a non-model species, illustrated by cold induced angiogenesis in the carp.
PMID 19852815 · PMC2771047 · BMC genomics · 2009 · 8 claims · 5 setups
The Conditional Stepped Reciprocal Best Hit (CSRBH) approach, combining direct RBH and zebrafish-stepped RBH (SRBH), outperformed other ortholog assignment methods and attained 8,726 carp-human functional homolog relationships for 16,650 carp contigs
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Mutation analysis in primary immunodeficiency diseases: case studies.
PMID 19841577 · PMC2774237 · Current opinion in allergy and clinical immunology · 2009 · 8 claims · 8 setups
Genomic DNA Sanger sequencing is the standard first-line approach for identifying PIDD-causing mutations but has limitations that can yield false-negative or false-positive results
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Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.
PMID 19718270 · PMC2732717 · Molecular vision · 2009 · 7 claims · 6 setups
A novel homozygous frameshift insertion in PROM1 (c.1349insT) causes cone-rod dystrophy with high myopia in this consanguineous family
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PPDPF is not a key regulator of human pancreas development.
PMID 40193385 · PMC12037078 · PLoS genetics · 2025 · 8 claims · 8 setups
PPDPF is not a key regulator of human pancreas development, in contrast to its zebrafish orthologue exdpf
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Eduomics: a Nextflow pipeline to simulate -omics data for education.
PMID 41816779 · PMC12972896 · NAR genomics and bioinformatics · 2026 · 8 claims · 4 setups
Eduomics is a Nextflow DSL2 pipeline that automates generation of validated variant-calling and RNA-seq datasets for education while abstracting away technical requirements
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Measurement reproducibility in the early stages of biomarker development.
PMID 15665389 · PMC3839328 · Disease markers · 2004 · 6 claims · 3 setups
Functional PCA can be used as the basis for gauge R&R (repeatability and reproducibility) assessment of mass spectra without prior identification of which spectral features are biomarkers
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A novel BRCA-1 mutation in Arab kindred from east Jerusalem with breast and ovarian cancer.
PMID 17233897 · PMC1784098 · BMC cancer · 2007 · 5 claims · 3 setups
A novel BRCA1 nonsense mutation, E1373X, in exon 12 was identified in a Palestinian Arab family with breast and ovarian cancer.
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Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.
PMID 18952485 · PMC2749264 · Parkinsonism & related disorders · 2009 · 5 claims · 3 setups
The LRRK2 R1441H substitution has arisen on multiple independent occasions rather than from a single common founder
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Allelic Variation at tRNA Genes in Three Nematode Species Indicates Mutation Load Despite Strong Purifying Selection.
PMID 41777052 · PMC13010820 · Genome biology and evolution · 2026 · 8 claims · 3 setups
tRNA genes and their flanking regions show signatures of high historical transcription-associated mutagenesis (TAM) combined with strong purifying selection on the gene body
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Identifying human pre-mRNA cleavage and polyadenylation factors by genome-wide CRISPR screens using a dual fluorescence readthrough reporter.
PMID 38587191 · PMC11077057 · Nucleic acids research · 2024 · 6 claims · 8 setups
A dual fluorescence (GFP-mCherry) readthrough reporter with a PAS inserted between the two reporters enables measurement of 3' end processing efficiency in living cells.