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).

• A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series.

  PMID 18234697 · PMC2577762 · Brain : a journal of neurology · 2008 · 8 claims · 7 setups

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  Five different pathogenic GRN mutations (frameshift/premature termination) were identified in 25 affected members of a large UK FTLD cohort, with no whole-gene deletions detected

  ftld grn genomic post-mortem clinical volumetric direct

• Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.

  PMID 18193044 · PMC2682493 · Nature genetics · 2008 · 8 claims · 7 setups

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  GWAS plus targeted replication identified 18 loci reproducibly associated with LDL cholesterol, HDL cholesterol, and/or triglycerides, six of which are newly identified

  blood liver fasting genome-wide targeted liver

• Personalized medicine: the future is not what it used to be.

  PMID 19958922 · PMC2844719 · Surgery · 2009 · 8 claims · 8 setups

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  Many rare tumors harbor a genomic Achilles heel that can be exploited for targeted therapy

  sw13 h295r drosophila acc drug synthetic gene

• A pharmacogenetics study of the human glucuronosyltransferase UGT1A4.

  PMID 19890225 · PMC6177227 · Pharmacogenetics and genomics · 2009 · 7 claims · 6 setups

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  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)

  genomic hek293 hepg2 microsomes pcr site-directed luciferase

• A new form of diabetes caused by INS mutations defined by zygosity, stem cell and population data.

  PMID 41484206 · PMC12905373 · EMBO molecular medicine · 2026 · 6 claims · 7 setups

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  INS R6C is a recessive loss-of-function mutation causing diabetes only in homozygous individuals, not a dominant mutation as previously classified.

  blood serum large-scale computational targeted autoantibody population

• RNA-Seq alignment to individualized genomes improves transcript abundance estimates in multiparent populations.

  PMID 25236449 · PMC4174954 · Genetics · 2014 · 8 claims · 7 setups

  Has reproduction · 50

  Genetic variants distinguishing an individual genome from the reference cause read misalignment and biased transcript abundance estimates, and fine-tuning of alignment algorithms does not correct this problem.

  liver genomic cast simulated bulk high-density rna-seq

• pmid-40874534

  PMID 40874534 · PMC12808545 · 6 claims · 6 setups

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  IVF-conceived mouse placentae exhibit global and cell type–specific gene expression differences compared to FB placentae

  e12.5 differentially trophoblast placenta single-nucleus pseudobulk pathway

• Evaluating the performance of ancient DNA genetic relatedness estimation methods using high-fidelity pedigree simulations.

  PMID 41796349 · PMC13081257 · Genome biology · 2026 · 8 claims · 5 setups

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  BADGER, an automated snakemake pipeline, was developed to simulate high-fidelity pedigrees and raw ancient DNA sequence data for benchmarking genetic relatedness methods

  genomes simulated pedigree ancient read

• Synaptic dysfunction and oxidative stress in Alzheimer's disease: emerging mechanisms.

  PMID 16989739 · PMC3933161 · Journal of cellular and molecular medicine · 2006 · 6 claims · 8 setups

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  Mutations in APP, PS1 and PS2 genes and polymorphisms in the APOE gene are implicated in AD pathogenesis

  alzheimer brain alzheimer's presenilin-1 microarray proteomic transgenic

• Chips to hits.

  PMID 11983055 · PMC139346 · Genome biology · 2002 · 8 claims · 8 setups

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  Illumina's fiber-optic bead array technology allows ~2,000 oligonucleotide-based assays per bead array for high-throughput genotyping

  individual yeast pools lncap cell-based affymetrix automated

• Harnessing the HGP of public health.

  PMID 15176090 · PMC1241998 · Environmental health perspectives · 2004 · 8 claims · 7 setups

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  The tombusvirus p19 protein selectively recognizes and sequesters short (21-22 nucleotide) silencing siRNAs, discriminating them from longer siRNAs by measuring siRNA length via tryptophan-mediated end-stacking interactions

  carnation cirv blood rice x-ray site-directed mass