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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A novel polymorphism in the 1A promoter region of the vitamin D receptor is associated with altered susceptibilty and prognosis in malignant melanoma.
PMID 15238985 · PMC2364794 · British journal of cancer · 2004 · 7 claims · 6 setups
A novel A-1012G (adenine-guanine) polymorphism exists in the VDR exon 1a promoter region, identified by SSCP screening and sequencing
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Has reproduction · 30
Single-Cell Sequencing of iPSC-Dopamine Neurons Reconstructs Disease Progression and Identifies HDAC4 as a Regulator of Parkinson Cell Phenotypes.
PMID 30503143 · PMC6327112 · Cell stem cell · 2019 · 8 claims · 8 setups
Single-cell transcriptomic analysis of GBA-N370S iPSC-derived dopamine neurons identifies a progressive axis of gene expression variation leading to endoplasmic reticulum stress.
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Has reproduction · 98
Mutations in dnaA and a cryptic interaction site increase drug resistance in Mycobacterium tuberculosis.
PMID 33253310 · PMC7738170 · PLoS pathogens · 2020 · 7 claims · 8 setups
Non-synonymous mutations in dnaA are statistically associated with drug resistance (INH, RIF, SM) in clinical M. tuberculosis strains across two independent GWAS cohorts (China and Vietnam)
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Has reproduction
A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome.
PMID 35764878 · PMC9437031 · European journal of human genetics : EJHG · 2022 · 8 claims · 6 setups
HRAS c.466C>T p.(Phe156Leu) is a novel de novo pathogenic variant causing an attenuated Costello syndrome phenotype in two unrelated boys
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The whole alignment and nothing but the alignment: the problem of spurious alignment flanks.
PMID 18796526 · PMC2566872 · Nucleic acids research · 2008 · 8 claims · 4 setups
Some common scoring schemes tend to overextend alignments, generating spurious alignment flanks up to hundreds of bp/amino acids in length
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In silico whole-genome screening for cancer-related single-nucleotide polymorphisms located in human mRNA untranslated regions.
PMID 17201911 · PMC1774567 · BMC genomics · 2007 · 8 claims · 5 setups
A computational EST-based pipeline can identify UTR-SNPs that are statistically over-represented in cancerous versus normal tissue libraries
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Genomic analysis of the Ixworth chicken: insights into a local dual-purpose breed.
PMID 41814148 · PMC13064311 · BMC genomics · 2026 · 6 claims · 8 setups
The Ixworth chicken is genetically distinct from red junglefowl, commercial broilers, and commercial layers.
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Has reproduction · 85
An extensive evaluation of read trimming effects on Illumina NGS data analysis.
PMID 24376861 · PMC3871669 · PloS one · 2013 · 8 claims · 8 setups
Read trimming increases the quality and reliability of downstream NGS analyses (RNA-Seq mapping, SNP identification, genome assembly) while reducing execution time and computational resources.
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Integrating genomic based information into clinical warfarin (Coumadin) management: an illustrative case report.
PMID 18763667 · PMC3696193 · Connecticut medicine · 2008 · 8 claims · 6 setups
Combined CYP2C9 and VKORC1 genotype can explain up to 45% of warfarin dose variability
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Identification of deleterious non-synonymous single nucleotide polymorphisms using sequence-derived information.
PMID 18588693 · PMC2446391 · BMC bioinformatics · 2008 · 8 claims · 5 setups
A decision tree built on 10 selected sequence-derived features classifies SAPs as Disease or Polymorphism with 82.6% accuracy and 0.607 MCC in cross-validation.
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Variants in the vitamin D receptor gene and asthma.
PMID 15651992 · PMC546000 · BMC genetics · 2005 · 8 claims · 6 setups
VDR gene variants are candidate risk factors for asthma/allergy because vitamin D effects are mediated through the VDR and VDR maps to the 12q asthma linkage region
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Exome sequencing of a multigenerational human pedigree.
PMID 20011588 · PMC2788131 · PloS one · 2009 · 8 claims · 6 setups
Microarray-based exome capture combined with 454 GS FLX NGS is an efficient and reliable method to enrich for chromosomal regions of interest, validated on eight individuals from a three-generation pedigree
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A pharmacogenetics study of the human glucuronosyltransferase UGT1A4.
PMID 19890225 · PMC6177227 · Pharmacogenetics and genomics · 2009 · 7 claims · 6 setups
Extensive sequencing of UGT1A4 (promoter to exon 1+2000bp) identified numerous novel polymorphisms: 13 intronic, 39 promoter, and 14 exonic variants (10 causing amino acid changes)
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Toward the use of genomics to study microevolutionary change in bacteria.
PMID 19855823 · PMC2756242 · PLoS genetics · 2009 · 7 claims · 5 setups
The clonal population structure of bacteria, combined with occasional DNA import, provides a powerful context for identifying genetic bases of adaptive phenotypes via association studies.
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Umi-pipeline-nf: a modular and scalable workflow for UMI-tagged nanopore amplicon analysis with real-time sequencing integration and GPU-acceleration.
PMID 41923360 · PMC13070649 · Bioinformatics (Oxford, England) · 2026 · 8 claims · 6 setups
umi-pipeline-nf is a portable, fully containerized, modular Nextflow DSL2 workflow that generates single-molecule consensus sequences from UMI-tagged nanopore amplicon data and scales linearly from single samples to large cohorts.
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Transposable elements are driving rapid adaptation of Enterococcus faecium.
PMID 42020750 · PMC13216065 · Nature · 2026 · 8 claims · 8 setups
E. faecium has the highest IS density among ESKAPEE pathogens, dominated by replicative ISL3 family elements
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A case of intolerance to warfarin dosing in an intermediate metabolizer of CYP2C9.
PMID 16385662 · PMC2810600 · Yonsei medical journal · 2005 · 7 claims · 2 setups
A patient heterozygous for CYP2C9*3 (genotype CYP2C9*1/*3) developed an extremely elevated INR on standard warfarin dosing, indicating impaired warfarin metabolism.
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Has reproduction · 68
Constraints to gene flow increase the risk of genome erosion in the Ngorongoro Crater lion population.
PMID 40258987 · PMC12012037 · Communications biology · 2025 · 8 claims · 9 setups
200 years of quasi-isolation and the 1962 epizootic caused a two-fold increase in inbreeding and an excess of highly deleterious mutations in Crater lions relative to other Greater Serengeti populations
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The gentle art of gene arrangement: the meaning of gene clusters.
PMID 11897017 · PMC139018 · Genome biology · 2002 · 8 claims · 7 setups
Gene order in eukaryotic genomes is likely optimized by natural selection rather than arising purely by chance reshuffling.
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Persistence of attenuated HIV-1 rev alleles in an epidemiologically linked cohort of long-term survivors infected with nef-deleted virus.
PMID 17601342 · PMC1933581 · Retrovirology · 2007 · 7 claims · 6 setups
Dominant, persistent rev alleles from SBBC subjects D36 and C64 show ~90% reduced Rev/RRE binding compared to HIV-1 NL4-3, C18, and C98 Revs.