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).

• Genome-wide prediction of functional gene-gene interactions inferred from patterns of genetic differentiation in mice and men.

  PMID 18270580 · PMC2217631 · PloS one · 2008 · 8 claims · 6 setups

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  Pairs of unlinked SNPs showing excess genetic differentiation (LD in mouse RILs, Fst in human populations) beyond what simulations/coalescent models predict by chance represent candidate functionally interacting (epistatic) gene pairs.

  bxd simulated subset populations genome-wide simulation genotype-phenotype

• Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene.

  PMID 20057903 · PMC2802291 · Molecular vision · 2009 · 7 claims · 8 setups

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  BEST1 mutations are not correlated with the severity of functional and clinical data in Best VMD patients

  genomic unrelated best1 best1-4 direct chromosome pathogenicity

• Protective effect of paraoxonase 1 gene variant Gln192Arg in age-related macular degeneration.

  PMID 20042177 · PMC3026437 · American journal of ophthalmology · 2010 · 6 claims · 4 setups

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  The Gln192Arg PON1 polymorphism is associated with decreased susceptibility to AMD, particularly wet AMD, indicating a protective effect

  genomic pcr-amplified case-control pon1 single-strand direct genetic

• A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I.

  PMID 19956413 · PMC2786890 · Molecular vision · 2009 · 7 claims · 4 setups

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  A novel missense mutation (1565T→A) in exon 12 of TGFBI, causing an I522N amino acid substitution, causes lattice corneal dystrophy type I in the studied Chinese family.

  genomic patients affected tgfbi pcr clinical visual

• Intrinsic structural disorder confers cellular viability on oncogenic fusion proteins.

  PMID 19888473 · PMC2768585 · PLoS computational biology · 2009 · 8 claims · 5 setups

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  Translocation-related human proteins are significantly enriched in intrinsic structural disorder compared to all human proteins

  translocation-related translocation cyclin-dependent intrinsic pfam randomized

• Screening for microsatellite instability identifies frequent 3'-untranslated region mutation of the RB1-inducible coiled-coil 1 gene in colon tumors.

  PMID 19888451 · PMC2766054 · PloS one · 2009 · 7 claims · 4 setups

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  Somatic mutation frequency (%MSI) of 3'UTR microsatellites in MSI-H colorectal tumors correlates significantly with microsatellite length (r=0.86, p=7.2×10−13), following an exponential growth model.

  msi-h computational rb1cc1 normal pcr nonlinear real-time

• An intergenic non-coding rRNA correlated with expression of the rRNA and frequency of an rRNA single nucleotide polymorphism in lung cancer cells.

  PMID 19838300 · PMC2759515 · PloS one · 2009 · 8 claims · 7 setups

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  An nc-rRNA is transcribed from the intergenic spacer upstream of the rRNA transcription start site in human lung epithelial and lung cancer cells, spanning roughly -1000 to at least +203/+300.

  lung hpl1d rrna external pcr rt-pcr quantitative

• Identification of a novel functional deletion variant in the 5'-UTR of the DJ-1 gene.

  PMID 19825160 · PMC2767350 · BMC medical genetics · 2009 · 8 claims · 6 setups

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  A novel 16 bp deletion variant (g.-6_+10del) was identified in the DJ-1 5'-UTR, spanning the transcription start site, 93 bp downstream of a known Sp1 site.

  genomic hek293 m17 south sscp dual-luciferase pcr-rflp

• Systematic prediction of human membrane receptor interactions.

  PMID 19798668 · PMC3076061 · Proteomics · 2009 · 7 claims · 6 setups

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  Predicting interactions specifically for membrane receptors, rather than deriving them from a general human interactome model, improves prediction performance for these proteins

  cos-1 um-22a hep3b gst-egfr co-immunoprecipitation pulldown binding

• Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant.

  PMID 19795481 · PMC3501199 · Human mutation · 2009 · 7 claims · 8 setups

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  BRCA2 c.6853A>G (p.I2285V) co-occurs in trans with the deleterious founder mutation c.5946delT, supporting classification as a neutral variant

  lymphocytes brca2 brca2-null ashkenazi rt-pcr splicing allelic

• Comparative proteomic analysis of the PhoP regulon in Salmonella enterica serovar Typhi versus Typhimurium.

  PMID 19746165 · PMC2736619 · PloS one · 2009 · 7 claims · 4 setups

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  Comparative HPLC-MS/MS proteomic analysis, using phoP-/Q- mutants as controls, identifies PhoP-regulated proteins in S. Typhimurium LT2, S. Typhi CT18, and S. Typhi Ty2

  typhimurium typhi genomic hplc-ms phon microarray

• Investigating the genetic association between ERAP1 and ankylosing spondylitis.

  PMID 19692350 · PMC2758148 · Human molecular genetics · 2009 · 8 claims · 8 setups

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  The genetic association between ERAP1 and AS is confirmed in an independent replication cohort

  patients cases genotype comparison snp meta-analysis resequencing

• Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.

  PMID 19649175 · PMC2718852 · Molecular vision · 2009 · 8 claims · 6 setups

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  A heterozygous missense mutation c.607G>A in exon 6 of CRYBB2, causing p.Val187Met, is the probable causative mutation for congenital nuclear cataract in this family

  genomic basotho pcr restriction secondary

• A genome-wide siRNA screen reveals diverse cellular processes and pathways that mediate genome stability.

  PMID 19647519 · PMC2772893 · Molecular cell · 2009 · 8 claims · 6 setups

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  A genome-wide siRNA screen in HeLa cells using γH2AX as a readout identifies genes whose knockdown elevates DNA damage/genome instability

  hela candidate screen genome-wide propidium sirna

• Proteomic-based identification of maternal proteins in mature mouse oocytes.

  PMID 19646285 · PMC2730056 · BMC genomics · 2009 · 8 claims · 6 setups

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  625 different proteins were identified from 2700 zona pellucida-free mature mouse MII oocytes, the largest oocyte proteome catalog to date

  mature mii identified tissues sds-page acid gene

• Multiomics and deep learning dissect regulatory syntax in human development.

  PMID 41951735 · PMC13216069 · Nature · 2026 · 8 claims · 8 setups

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  The Human Development Multiomic Atlas (HDMA) is a single-cell atlas of chromatin accessibility and gene expression from 817,740 fetal cells across 12 organs, spanning 203 cell types

  fetal annotated embryo chrombpnet share-seq chromvar activity-by-contact

• Determining the quality and complexity of next-generation sequencing data without a reference genome.

  PMID 25514851 · PMC4298064 · Genome biology · 2014 · 8 claims · 8 setups

  Has reproduction · 78

  kPAL, an open-source alignment-free package, assesses sequencing data quality and complexity using k-mer frequency profiles and pairwise distances between them, without a reference sequence.

  rna-seq genome wgs exome k-mer rna-seq read

• Identification of novel DNA sequence motifs that modulate transcription in T cells.

  PMID 41514212 · PMC12879379 · BMC genomics · 2026 · 8 claims · 8 setups

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  Identified 2,036 novel DNA motifs enriched in regulatory regions of T-cell-specific genes

  t-cell non-t-cell cd4+ sequences rna-seq dnase-seq h3k27ac

• The functional landscape of alternative splicing in hematopoietic lineage commitment.

  PMID 41593078 · PMC12946277 · Nature communications · 2026 · 7 claims · 8 setups

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  FAScore, a Random Forest model integrating 19 dynamic, structural, and conservation features, predicts functional exon-skipping AS events with high accuracy in a species- and lineage-specific manner.

  umbilical bone fetal zebrafish bulk machine exon

• The evolution of gene regulation in mammalian cerebellum development.

  PMID 41610256 · PMC7618896 · Science (New York, N.Y.) · 2026 · 8 claims · 8 setups

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  Combined single-nucleus RNA-seq and ATAC-seq atlases of cerebellum development were generated/integrated across six mammals (human, bonobo, macaque, marmoset, mouse, opossum)

  developing opossum marmoset cultures single-nucleus bulk gene