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).

• Cell Specific eQTL Analysis without Sorting Cells.

  PMID 25955312 · PMC4425538 · PLoS genetics · 2015 · 7 claims · 4 setups

  Has reproduction · 90

  A genotype x predicted-cell-count interaction (GxE) meta-analysis across whole blood datasets can detect neutrophil-specific cis-eQTLs without cell sorting

  blood neutrophils cis-eqtl cell-count rna-seq

• Mosaicism in von Hippel-Lindau disease: an event important to recognize.

  PMID 18205710 · PMC4401302 · Journal of cellular and molecular medicine · 2007 · 7 claims · 5 setups

  Full-text index only

  The proband's father is a somatic mosaic for a VHL missense mutation (R161Q), explaining his mild, late-onset phenotype compared to his daughter's severe early-onset disease.

  peripheral father's pcr proband dhplc sanger semiquantitative

• Description of a PCR-based technique for DNA splicing and mutagenesis by producing 5' overhangs with run through stop DNA synthesis utilizing Ara-C.

  PMID 16137330 · PMC1208860 · BMC biotechnology · 2005 · 7 claims · 7 setups

  Full-text index only

  Two adjacent Ara-C molecules incorporated into a PCR primer produce mild template-dependent polymerization termination, generating 5' overhangs usable for cohesive-end ligation.

  plasmid pcr gel-isolated ligated pcr gel ligation

• Hierarchical classification-based pan-cancer methylation analysis to classify primary cancer.

  PMID 38066424 · PMC10709847 · BMC bioinformatics · 2023 · 8 claims · 8 setups

  Has reproduction · 83

  CHCT, a two-tier hierarchical classification tool built from methylation data, accurately classifies primary cancer type across 30 cancer types.

  tumor clinical methylation clustered methylation unsupervised anova

• Variation in breast cancer risk in BRCA1 and BRCA2 mutation carriers.

  PMID 18710587 · PMC2575529 · Breast cancer research : BCR · 2008 · 8 claims · 4 setups

  Full-text index only

  Lifetime breast cancer risk estimates in BRCA1/2 mutation carriers vary widely (roughly 40% to >80%) depending on the study population and ascertainment method

  women first-degree brca2 families population-based standardized combined

• Molecular analysis of Plasmodium ovale variants.

  PMID 15324543 · PMC3323326 · Emerging infectious diseases · 2004 · 8 claims · 5 setups

  Full-text index only

  P. ovale isolates separate into two genetically distinct types, classic (Nigerian I/CDC) and variant (LS), consistent across four independent gene loci.

  ovale plasmodium pcr first comparative

• Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy.

  PMID 16764716 · PMC1586026 · BMC cancer · 2006 · 8 claims · 6 setups

  Full-text index only

  The 9106C>T (Q2960X) and IVS16-2A>G BRCA2 mutations are recurrent in MBC families from North-East Italy and may reflect a founder effect.

  blood germline tumor family mutation mlpa microsatellite

• Stem rust resistance in wheat is suppressed by a subunit of the mediator complex.

  PMID 32111840 · PMC7048732 · Nature communications · 2020 · 8 claims · 8 setups

  Has reproduction · 95

  SuSr-D1 encodes Med15b.D, a subunit of the Mediator complex

  wheat flow-sorted uninoculated med15 seedling plant flow-sorted

• GeMI: interactive interface for transformer-based Genomic Metadata Integration.

  PMID 35657113 · PMC9216561 · Database : the journal of biological databases and curation · 2022 · 8 claims · 5 setups

  Has reproduction · 64

  GeMI is a web tool that uses a fine-tuned GPT2 model to extract 15 structured key-value attributes from free-text GEO sample metadata.

  cistrome encode geo fine-tuned manual batch transformer-based

• Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channel.

  PMID 19808432 · PMC2725366 · Circulation. Arrhythmia and electrophysiology · 2008 · 8 claims · 7 setups

  Full-text index only

  G1631D causes profound cardiac sodium channel dysfunction: markedly slowed inactivation (~10-fold), increased persistent current, depolarized voltage dependence of activation/inactivation, and slowed recovery from inactivation

  newborn tsa201 perinatal genetic whole-cell single-channel

• Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer.

  PMID 14970868 · PMC2410159 · British journal of cancer · 2004 · 7 claims · 5 setups

  Full-text index only

  A large fraction of high-risk individuals in mutation-positive HNPCC families does not undergo genetic testing despite its benefits.

  colorectal formalin-fixed germline first-degree microsatellite immunohistochemistry mutation

• Gefitinib for non-small-cell lung cancer patients with epidermal growth factor receptor gene mutations screened by peptide nucleic acid-locked nucleic acid PCR clamp.

  PMID 17106442 · PMC2360739 · British journal of cancer · 2006 · 5 claims · 4 setups

  Full-text index only

  NSCLC patients with EGFR mutations detected by PNA-LNA PCR clamp show significantly higher response rates and longer survival with gefitinib than EGFR wild-type patients.

  clinical nsclc pna-lna direct phase

• Putting science over supposition in the arena of personalized genomics.

  PMID 18665132 · PMC2531214 · Nature genetics · 2008 · 6 claims · 3 setups

  Full-text index only

  There is a rapidly widening gap between gene-disease association discovery and research into the public health/clinical utility of that information.

  adults same tested baseline multiplex telephone-based

• Genomic approaches used to investigate an atypical outbreak of Salmonella Adjame.

  PMID 30648934 · PMC6412060 · Microbial genomics · 2019 · 8 claims · 7 setups

  Has reproduction · 100

  WGS typing of the S. Adjame outbreak showed marked sub-clustering and genetic heterogeneity atypical of a point-source Salmonella outbreak

  adjame first outbreak food genome snp-based core

• Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.

  PMID 19093009 · PMC2603250 · Molecular vision · 2008 · 8 claims · 6 setups

  Full-text index only

  OCT detects foveal and lamellar macular retinoschisis more frequently than funduscopy alone

  xlrs genomic optical full-field multifocal

• Expression Atlas update--a database of gene and transcript expression from microarray- and sequencing-based functional genomics experiments.

  PMID 24304889 · PMC3964963 · Nucleic acids research · 2014 · 8 claims · 6 setups

  Has reproduction · 84

  Expression Atlas is a value-added database providing gene, protein and splice variant expression across cell types, organism parts, developmental stages, diseases and other biological/experimental conditions, built from manually curated high-quality microarray and RNA-sequencing experiments from ArrayExpress.

  organisms arrayexpress-derived pride rna-sequencing single-channel two-colour