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).

• MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease.

  PMID 19758471 · PMC2745589 · BMC bioinformatics · 2009 · 8 claims · 5 setups

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  MtSNPscore, a weighted scoring pipeline combining literature evidence, in silico predictions, and case/control frequency, can prioritize likely pathogenic mtDNA variations

  sporadic mitochondrial reported ataxia mitochondrial functional compensatory

• Proteomics as a method for early detection of cancer: a review of proteomics, exhaled breath condensate, and lung cancer screening.

  PMID 18095050 · PMC2150625 · Journal of general internal medicine · 2008 · 8 claims · 7 setups

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  Protein expression is closely aligned with cellular activity, unlike genomic changes which may have no functional significance

  serum resected plasma lower microarray two-dimensional proteomic

• The identification of a Distinct Astrocyte Subtype that Diminishes in Alzheimer's Disease.

  PMID 38502590 · PMC11567244 · Aging and disease · 2024 · 7 claims · 6 setups

  Has reproduction · 57

  A distinct astrocyte subpopulation marked by low GFAP, plus AQP4 and CD63 expression, exists in normal brain but is diminished in AD samples in both human and mouse.

  prefrontal snrna-seq frontal brain single-nuclei gene cell-cell

• The matrix metalloproteinase-3 (MMP-3) 5A/6A promoter polymorphism is not associated with ischaemic heart disease: analysis employing a family based approach.

  PMID 15665388 · PMC3839324 · Disease markers · 2004 · 6 claims · 3 setups

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  The MMP-3 -1612 5A/6A polymorphism is not associated with ischaemic heart disease in an Irish population.

  peripheral family extended pcr-rflp combined pedigree

• Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.

  PMID 40963120 · PMC12445032 · Genome medicine · 2025 · 7 claims · 4 setups

  Has reproduction · 88

  Trio genome sequencing (tGS) achieves higher prospective diagnostic yield than standard-of-care (SoC) and singleton genome sequencing (sGS) even when performed by a newly trained team.

  individuals index blood short-read exome array

• Clues to the etiology of autoimmune diseases through analysis of immunoglobulin genes.

  PMID 11879542 · PMC128918 · Arthritis research · 2002 · 8 claims · 6 setups

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  Antibody sequences that violate normal ontogenic/developmental constraints indicate a failure of B-cell regulation

  peripheral diseased rheumatoid autoimmune immunoglobulin single-cell cloning

• Nursing advocacy in a postgenomic age.

  PMID 19850180 · PMC2766592 · The Nursing clinics of North America · 2009 · 8 claims · 3 setups

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  Nurses need genetics/genomics competency (knowledge, reasoning, and action) to be effective patient advocates in the post-genomic era

  young individuals registered qualitative expert

• Identification of disease causing loci using an array-based genotyping approach on pooled DNA.

  PMID 16197552 · PMC1262713 · BMC genomics · 2005 · 8 claims · 5 setups

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  Pooling genomic DNA and genotyping on SNP microarrays accurately predicts allelic frequencies relative to individual genotyping

  genomic pools training siddt individual pooled k-correction

• Severe COVID-19 Shares a Common Neutrophil Activation Signature with Other Acute Inflammatory States.

  PMID 35269470 · PMC8909161 · Cells · 2022 · 7 claims · 7 setups

  Has reproduction · 88

  COVID-19 and HLH share immunological pathways, yielding 237 common up-regulated DEGs dominated by cytokine/chemokine signaling and neutrophil-mediated immune responses.

  peripheral leukocytes plasma degs bulk single-cell plasma

• Fucosylated glycoproteins as markers of liver disease.

  PMID 19126969 · PMC3827789 · Disease markers · 2008 · 8 claims · 6 setups

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  Core alpha 1,6-linked fucosylation of AFP (AFP-L3) is increased in HCC and is a more specific marker of HCC than total AFP

  afp pooled larger igg lectin fucose-specific immunoblot

• A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.

  PMID 19093007 · PMC2603185 · Molecular vision · 2008 · 7 claims · 5 setups

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  A novel mutation (1666 A>G, exon 15, S556R) in BBS7 causes BBS in this Chinese family

  at-risk eyes blood bbs7 clinical ophthalmologic genetic

• Genotype differences in cognitive functioning in Noonan syndrome.

  PMID 19077116 · PMC2760992 · Genes, brain, and behavior · 2009 · 8 claims · 6 setups

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  Genotype differences account for some of the variation in cognitive ability in Noonan syndrome

  individuals participants parents standardized genetic pure-tone

• Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1.

  PMID 18580586 · PMC2750842 · Alzheimer disease and associated disorders · 2008 · 8 claims · 8 setups

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  The PSEN1 N135S mutation causes EOFAD with an atypical phenotype including spastic dysarthria, limb spasticity, and seizures in addition to typical cognitive deficits

  archival medulla cortex hippocampus immunohistochemistry thioflavin-s pcr

• The use of urine proteomic and metabonomic patterns for the diagnosis of interstitial cystitis and bacterial cystitis.

  PMID 15258332 · PMC3850593 · Disease markers · 2003 · 6 claims · 2 setups

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  Urine MS and 1H-NMR spectral patterns can be used to discriminate IC-affected, BC-affected, and unaffected individuals with approximately 84% success rate.

  urine surface-binding high-resolution

• Whole genome association mapping by incompatibilities and local perfect phylogenies.

  PMID 17042942 · PMC1624851 · BMC bioinformatics · 2006 · 8 claims · 8 setups

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  Blossoc scores the perfect phylogenetic tree spanning the largest compatible region around each marker as a decision tree for case/control status to detect association

  coalescent-simulated artificial empirical same perfect-phylogeny hapminer haplotype

• Adaptations to climate in candidate genes for common metabolic disorders.

  PMID 18282109 · PMC2242814 · PLoS genetics · 2008 · 8 claims · 7 setups

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  A network-based bioinformatics approach (Molecular Triangulation) was used to select 82 candidate genes belonging to the core subnetwork of metabolic syndrome phenotypes.

  individuals population genic compiled snp spearman bayesian

• Metagenomic analysis of respiratory tract DNA viral communities in cystic fibrosis and non-cystic fibrosis individuals.

  PMID 19816605 · PMC2756586 · PloS one · 2009 · 8 claims · 8 setups

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  CF phage communities are highly similar to each other, whereas Non-CF individuals have more distinct, variable phage communities reflecting transient environmental sampling

  sputum phage metagenomes inferred metagenomic functional diversity

• New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.

  PMID 19686598 · PMC2736583 · BMC medical genetics · 2009 · 8 claims · 7 setups

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  DGGE screening of the non-duplicated PKD1 region detects likely pathogenic mutations in Czech ADPKD patients

  genomic pcr polycystin-1 czech denaturing sanger family

• PDA: Pooled DNA analyzer.

  PMID 16643673 · PMC1539032 · BMC bioinformatics · 2006 · 8 claims · 4 setups

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  No software existed prior to PDA for complete pooled-DNA analysis including data standardization, allele frequency estimation, and single/multipoint association tests

  heterozygous pools ordered peak pooled single-point

• Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.

  PMID 39256359 · PMC11387733 · Nature communications · 2024 · 8 claims · 7 setups

  Has reproduction · 87

  Heterozygous missense or loss-of-function variants in LRRC7 cause a dominant neurodevelopmental disorder in 33 identified individuals

  genomes genematcher affected 293t genetic exome phenotype