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).

• Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis.

  PMID 19668597 · PMC2722712 · Molecular vision · 2009 · 7 claims · 4 setups

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  A heterozygous MYOC mutation c.1109C>T (P370L) in exon 3 cosegregates with disease, present in all 6 affected members and absent in asymptomatic members.

  genomic patients pcr clinical genomic

• Relation of candidate genes that encode for endothelial function to migraine and stroke: the Stroke Prevention in Young Women study.

  PMID 19661472 · PMC2753702 · Stroke · 2009 · 8 claims · 6 setups

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  EDN SNP rs1800542 is associated with increased ischemic stroke risk in Caucasian women

  international spyw candidate haplotype population

• X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions.

  PMID 19654509 · PMC2763399 · Clinical dysmorphology · 2009 · 7 claims · 5 setups

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  A 21bp in-frame insertion causing a 7-alanine expansion in the SOX3 polyalanine tract causes X-linked isolated growth hormone deficiency (IGHD) without learning disability.

  affected family patients pedigree sanger pcr-based endocrine

• A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy.

  PMID 19649163 · PMC2718742 · Molecular vision · 2009 · 7 claims · 7 setups

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  A novel heterozygous UBIAD1 mutation, G98S, was identified in two affected members (proband and her father) of a Chinese SCCD family.

  genomic cornea corneas blood direct pcr laser

• Inherited disorder phenotypes: controlled annotation and statistical analysis for knowledge mining from gene lists.

  PMID 16351744 · PMC1866390 · BMC bioinformatics · 2005 · 5 claims · 3 setups

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  OMIM Clinical Synopsis free-text phenotype and location names can be normalized and hierarchically structured into a controlled vocabulary suitable for computational analysis

  omim gene text statistical gene

• CorGen--measuring and generating long-range correlations for DNA sequence analysis.

  PMID 16845099 · PMC1538783 · Nucleic acids research · 2006 · 8 claims · 3 setups

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  CorGen is a web server that measures long-range correlations in DNA sequences and generates random sequences with the same (or user-specified) correlation and composition parameters

  chromosome query synthetic long-range sequence

• Social and ethical implications of genomics, race, ethnicity, and health inequities.

  PMID 19000599 · PMC2892396 · Seminars in oncology nursing · 2008 · 8 claims · 5 setups

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  Race and ethnicity are increasingly viewed as genetic surrogates for predicting disease risk and treatment response, though directly assessing genomic and environmental factors is more accurate.

  population prostate non-small-cell breast genome-wide gene somatic

• SOP3v2: web-based selection of oligonucleotide primer trios for genotyping of human and mouse polymorphisms.

  PMID 15980532 · PMC1160243 · Nucleic acids research · 2005 · 7 claims · 3 setups

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  SOP 3 v2 is a web-based application that outputs recommended forward/reverse PCR primers plus a sequencing primer optimized for sequence-based genotyping of human and mouse polymorphisms

  genomic ncbi laboratory primer genomic

• Causal models in epidemiology: past inheritance and genetic future.

  PMID 16859537 · PMC1557493 · Environmental health : a global access science source · 2006 · 8 claims · 3 setups

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  Interaction is a fundamental characteristic of any causal process involving probabilistic steps, not a second-order phenomenon identified after accounting for main effects

  smokers population cohort observational biomarker pulmonary

• The rate of the 6174delT founder Jewish mutation in BRCA2 in patients with non-colonic gastrointestinal tract tumours in Israel.

  PMID 11207041 · PMC2363777 · British journal of cancer · 2001 · 8 claims · 2 setups

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  The 6174delT BRCA2 mutation carrier rate is significantly higher in Jewish Ashkenazi non-colonic GI cancer patients (8.6%) than in the general Ashkenazi population (1.16%)

  unselected peripheral extraction pcr

• Supervised learning-based tagSNP selection for genome-wide disease classifications.

  PMID 18366619 · PMC2386071 · BMC genomics · 2008 · 7 claims · 2 setups

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  SRFA (Supervised Recursive Feature Addition) is a novel feature selection method combining supervised learning and statistical redundancy measures for SNP selection

  micc narac snp

• The meso-genomic era.

  PMID 11516332 · PMC139414 · Genome biology · 2001 · 8 claims · 8 setups

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  Linkage disequilibrium (LD) between SNPs extends much further in Northern European populations (~120 kb) than in a Nigerian population (<10 kb), reflecting differing population histories (bottlenecks vs. constant expansion).

  genome chromosome families tomato snp haplotype genetic

• ECgene: an alternative splicing database update.

  PMID 17132829 · PMC1716719 · Nucleic acids research · 2007 · 8 claims · 5 setups

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  ECgene provides functional annotation (domain, GO, expression pattern) for alternatively spliced genes

  nine genome sage cdna genome-based chi-squared sage

• Discovery and hypothesis generation through bioinformatics.

  PMID 16522224 · PMC1431734 · Genome biology · 2006 · 8 claims · 8 setups

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  Bioinformatics should be used as a tool for discovery and hypothesis generation, not merely to manage biological data

  genome chemokine gene-expression proteins genome-wide phylogenetic microarray

• CEBS--Chemical Effects in Biological Systems: a public data repository integrating study design and toxicity data with microarray and proteomics data.

  PMID 17962311 · PMC2238989 · Nucleic acids research · 2008 · 8 claims · 5 setups

  Full-text index only

  CEBS is a public repository that integrates study design, timeline, clinical chemistry and histopathology data with microarray and proteomics data

  subcellular laboratory cebs microarray gel clinical

• Processing and population genetic analysis of multigenic datasets with ProSeq3 software.

  PMID 19797407 · PMC2778335 · Bioinformatics (Oxford, England) · 2009 · 8 claims · 7 setups

  Full-text index only

  ProSeq3 is a program with a graphic user interface that simplifies preparation and basic population genetic analysis of multigenic DNA polymorphism datasets

  software authors sequence polymorphism phylogenetic

• Interpretable prediction models for widespread m6A RNA modification across cell lines and tissues.

  PMID 37995291 · PMC10697738 · Bioinformatics (Oxford, England) · 2023 · 8 claims · 8 setups

  Has reproduction · 79

  CLSM6A is a set of CNN-based deep learning models that predict single-nucleotide-resolution m6A RNA modification sites across eight cell lines and three tissues in H. sapiens

  hct116 a549 brain hek293t miclip m6a-clip-seq m6a-seq

• 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

• Identification of immune-related signatures and pathogenesis differences between thoracic aortic aneurysm patients with bicuspid versus tricuspid valves via weighted gene co-expression network analysis.

  PMID 37883426 · PMC10602290 · PloS one · 2023 · 6 claims · 8 setups

  Has reproduction · 97

  TAA/TAV pathogenesis is more strongly associated with immune-related gene expression than TAA/BAV.

  aortic genes wgcna gene cibersort

• Whole-genome analysis of a multidrug-resistant Klebsiella michiganensis environmental isolate from an orthopedic ward in Mwanza, Tanzania reveals IncF-family plasmid replicon signatures associated with resistance determinants.

  PMID 41957580 · PMC13173886 · BMC genomics · 2026 · 8 claims · 8 setups

  Has reproduction · 82

  An isolate phenotypically identified as K. oxytoca was reclassified by genome-based taxonomy (GTDB-Tk, ANI, BLAST) as Klebsiella michiganensis

  michiganensis a55848 african assembled whole-genome novo genome-based