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).

• Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia.

  PMID 19120350 · PMC2724897 · British journal of haematology · 2009 · 8 claims · 4 setups

  Full-text index only

  JAK2 R683 point mutations occur in 18.9% (10/53) of DS ALL cases, confirming the previously reported incidence.

  bone remission sanger pyrosequencing paired

• Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.

  PMID 19949657 · PMC2775849 · Journal of Korean medical science · 2009 · 7 claims · 8 setups

  Full-text index only

  Sequencing of CLCN1 in 10 unrelated Korean MC patients identified nine different point mutations, six of which are novel (p.M128I, p.S189C, p.M373L, p.P480S, p.G523D, p.M609K).

  genomic frozen skeletal korean direct rt-pcr-based pcr-restriction

• CIRCprimerXL: Convenient and High-Throughput PCR Primer Design for Circular RNA Quantification.

  PMID 36304334 · PMC9580850 · Frontiers in bioinformatics · 2022 · 8 claims · 5 setups

  Has reproduction · 88

  CIRCprimerXL is a high-throughput, user-friendly circRNA RT-qPCR primer design pipeline available as both a web tool and a standalone Nextflow/Docker pipeline

  synthetic sw480 circrnas rt-qpcr circrna primer

• Extraction of human kinase mutations from literature, databases and genotyping studies.

  PMID 19758464 · PMC2745582 · BMC bioinformatics · 2009 · 7 claims · 6 setups

  Full-text index only

  A literature mining pipeline combining MutationFinder, false-positive filtering, and SVM-based classification can extract and disambiguate single-point mutation mentions from abstracts and full text

  pubmed large labeled swissprot literature supervised comparative

• Examination of tetrahydrobiopterin pathway genes in autism.

  PMID 19674121 · PMC2784255 · Genes, brain, and behavior · 2009 · 8 claims · 6 setups

  Full-text index only

  PTS (6-pyruvoyl-tetrahydropterin synthase) shows significant nominal association with autism (p=0.009), not restricted to affected-male-only subset

  non-hispanic subset trios case snp two-point pedigree

• WikiPathways App for Cytoscape: Making biological pathways amenable to network analysis and visualization.

  PMID 25254103 · PMC4168754 · F1000Research · 2014 · 8 claims · 7 setups

  Has reproduction · 76

  The open-source WikiPathways app for Cytoscape imports biological pathways from WikiPathways for data visualization and network analysis.

  cardiac cytoscape rna-seq pathway network

• Mutation patterns of mtDNA: empirical inferences for the coding region.

  PMID 18518963 · PMC2438339 · BMC evolutionary biology · 2008 · 5 claims · 3 setups

  Full-text index only

  Heteroplasmy was detected in 6.5% (3/46) of Azorean families analyzed, all caused by new point mutations with no insertions/deletions.

  extended-family same direct electropherogram molecular

• Mutant, wild type, or overall p53 expression: freedom from clinical progression in tumours of astrocytic lineage.

  PMID 15494720 · PMC2409947 · British journal of cancer · 2004 · 8 claims · 7 setups

  Full-text index only

  Significant overexpression of p53 protein was found in 48% of 74 astrocytic tumours

  archival subset recombinant same immunohistochemistry antibody cytokeratin

• p53 expression and its relationship to DNA alterations in bone and soft tissue sarcomas.

  PMID 8260365 · PMC1968651 · British journal of cancer · 1993 · 8 claims · 6 setups

  Full-text index only

  25.7% (29/113) of bone and soft tissue sarcomas show positive p53 immunostaining

  frozen subset saos-2 immunohistochemistry southern pcr-single

• Frequent p53 mutation in brain (fetal)-type glycogen phosphorylase positive foci adjacent to human 'de novo' colorectal carcinomas.

  PMID 11384100 · PMC2363669 · British journal of cancer · 2001 · 7 claims · 6 setups

  Full-text index only

  BGP positive foci occur sporadically in the transitional mucosa adjacent to 'de novo' colorectal carcinomas in all cases studied

  colorectal microdissected pcr-amplified immunohistochemistry pcr-sscp cloning

• COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.

  PMID 15756302 · PMC2673054 · European journal of human genetics : EJHG · 2005 · 8 claims · 4 setups

  Full-text index only

  COMP mutations were identified in 78% of families referred with PSACH

  genomic sequence subset pcr bidirectional sequence

• Performance of mitochondrial DNA mutations detecting early stage cancer.

  PMID 18834532 · PMC2572633 · BMC cancer · 2008 · 8 claims · 6 setups

  Full-text index only

  The Affymetrix MitoChip resequencing array is a high-throughput, higher-resolution alternative to capillary sequencing for detecting mtDNA point mutations and heteroplasmy in clinical specimens.

  matched blood mtdna low-quantity mitochondrial capillary str

• A genome wide linkage scan of metacarpal size and geometry in the Framingham Study.

  PMID 18449921 · PMC2574919 · American journal of human biology : the official journal of the Human Biology Council · 2008 · 8 claims · 4 setups

  Full-text index only

  Metacarpal geometric indices (length, midshaft width, MCT, MCI, MZ) show significant heritability, ranging from 0.51 (MCT) to 0.82 (length)

  hand individuals same radiogrammetry genome-wide variance