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).

• The brain-derived neurotrophic factor rs6265 (Val66Met) polymorphism and depression in Mexican-Americans.

  PMID 17632285 · PMC2686836 · Neuroreport · 2007 · 7 claims · 4 setups

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  BDNF SNP rs6265 (Val66Met) is significantly associated with diagnosis of major depression in Mexican-Americans

  genomic same participants genotyped snp hardy-weinberg clinical

• Pathogenic mitochondrial DNA mutations are common in the general population.

  PMID 18674747 · PMC2495064 · American journal of human genetics · 2008 · 7 claims · 6 setups

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  At least 1 in 200 healthy humans harbors a pathogenic mtDNA mutation with potential to cause disease in offspring of female carriers

  neonatal independent m.1555a→g-positive mutation-positive high-throughput last-cycle cloning

• Frequent detection of familial hypercholesterolemia mutations in familial combined hyperlipidemia.

  PMID 19007591 · PMC3423908 · Journal of the American College of Cardiology · 2008 · 8 claims · 3 setups

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  A substantial proportion (20%) of patients with a clinical diagnosis of FCHL carry functional LDLR mutations typically associated with FH

  unrelated same subset targeted gene apoe

• PolyGenie: a reproducible Nextflow pipeline for phenome-wide association studies using polygenic risk scores.

  PMID 42272542 · PMC13247587 · NAR genomics and bioinformatics · 2026 · 7 claims · 6 setups

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  PolyGenie is an open-source Nextflow pipeline that takes precomputed PRS and phenotype data as input and performs scalable PheWAS analysis across binary and continuous outcomes

  gcat phewas genome-wide genotype

• Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.

  PMID 18204449 · PMC2684619 · Nature genetics · 2008 · 8 claims · 8 setups

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  Mutations in GLE1, an mRNA export mediator, cause LCCS1

  lccs1 laahd finnish healthy genomic microsatellite carrier

• Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

  PMID 19941982 · PMC4354948 · European journal of medical genetics · 2010 · 8 claims · 5 setups

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  Three Hispanic families from Mexico with novel FBN1 mutations show cardiovascular and ocular manifestations of MFS but a paucity of skeletal manifestations.

  hispanic hmfs001 family genomic clinical echocardiography ophthalmologic

• Genome sequence, comparative analysis, and population genetics of the domestic horse.

  PMID 19892987 · PMC3785132 · Science (New York, N.Y.) · 2009 · 8 claims · 7 setups

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  Produced a high-quality draft genome assembly of the domestic horse (EquCab2.0)

  single horse eight twelve genome fish chip-on-chip

• Multi-modal dissection of cell-type specific TDP-43 pathology in the motor cortex.

  PMID 41803120 · PMC12982666 · Nature communications · 2026 · 7 claims · 4 setups

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  Mainly excitatory cortical neurons are affected by TDP-43 pathology in the ALS/ALS-FTD motor cortex

  post-mortem publicly als single-nucleus single-nucleus spatial genotyping