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).

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

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

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  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

• A novel de novo mutation in the serine-threonine kinase STK11 gene in a Korean patient with Peutz-Jeghers syndrome.

  PMID 18495044 · PMC2430547 · BMC medical genetics · 2008 · 8 claims · 3 setups

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  Germline mutation of STK11 is responsible for Peutz-Jeghers syndrome

  peripheral chromosomes colonic pcr chromosome histopathological

• Evolution of insect proteomes: insights into synapse organization and synaptic vesicle life cycle.

  PMID 18257909 · PMC2374702 · Genome biology · 2008 · 8 claims · 3 setups

  Full-text index only

  Compiled a list of 120 core presynaptic gene prototypes (PS120) and catalogued their conservation across insect proteomes.

  insect vamp2 ps120 comparative sequence protein-protein

• A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin.

  PMID 19674475 · PMC2736932 · BMC medical genetics · 2009 · 7 claims · 3 setups

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  A Pakistani consanguineous family with three pycnodysostosis-affected individuals shows genetic linkage to the CTSK locus on chromosome 1q21

  pakistani genomic microsatellite pcr acii

• Visualizing the genome: techniques for presenting human genome data and annotations.

  PMID 12149135 · PMC119855 · BMC bioinformatics · 2002 · 8 claims · 4 setups

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  Web-based client-server genome browsers (e.g., LocusLink evidence viewer, UCSC genome browser) are limited by lack of true interactivity, requiring server round-trips for navigation

  flj22324 snurf arg1 plat cdna-to-genomic multi-track frame-of-translation

• Gene Ontology annotations: what they mean and where they come from.

  PMID 18460184 · PMC2367625 · BMC bioinformatics · 2008 · 7 claims · 3 setups

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  A GO annotation is a formal statement linking a gene product type to a molecular function, biological process, or cellular component type, based on experimental observations or inferences.

  extract embryo preimplantation enzymatic mutational immunofluorescence

• Widespread mono- and oligoadenylation direct small noncoding RNA maturation versus degradation fates.

  PMID 41350938 · PMC12811392 · The EMBO journal · 2026 · 8 claims · 2 setups

  Has reproduction · 78

  Post-transcriptional adenylation of newly transcribed sncRNAs is widespread and occurs in two distinct varieties: transient oligoadenylation and stable monoadenylation

  hek293t-rex global differential

• Most microsatellite unstable sporadic colorectal carcinomas carry MBD4 mutations.

  PMID 11104560 · PMC2363466 · British journal of cancer · 2000 · 8 claims · 2 setups

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  MBD4 mutations occur in 89% (17/19) of RER+ sporadic colorectal carcinomas when microdissected tumor sites are analyzed

  microdissected frozen pcr comparison

• 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

• Mitochondrial D-loop mutations and deletion profiles of cancerous and noncancerous liver tissue in hepatitis B virus-infected liver.

  PMID 15785740 · PMC2361973 · British journal of cancer · 2005 · 8 claims · 2 setups

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  D-loop mutation frequency is significantly higher in both noncancerous and tumour liver tissue of HCC/HBV patients than in normal control liver

  liver pcr

• Lack of significant association of an insertion/deletion polymorphism in the angiotensin converting enzyme (ACE) gene with tropical calcific pancreatitis.

  PMID 17163998 · PMC1762011 · BMC gastroenterology · 2006 · 7 claims · 2 setups

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  The ACE I/D polymorphism shows no significant association with TCP or FCPD pathogenesis, fibrosis, or progression

  peripheral pcr sanger

• VarDetect: a nucleotide sequence variation exploratory tool.

  PMID 19091032 · PMC2638149 · BMC bioinformatics · 2008 · 8 claims · 2 setups

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  VarDetect is a stand-alone software tool that automatically detects nucleotide variation (SNPs) from fluorescence-based chromatogram traces using pre-calculated peak content ratios and artifact-handling rules.

  genomic vardetect automatic software

• An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI.

  PMID 18636123 · PMC2467519 · Molecular vision · 2008 · 6 claims · 2 setups

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  A heterozygous c.1915G>A mutation in exon 14 of TGFBI (p.G623D) causes an atypical form of RBCD in this Chinese family, distinct from previously reported phenotypes for the same mutation.

  genomic family pcr clinical

• An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families.

  PMID 18615206 · PMC2443752 · Molecular vision · 2008 · 7 claims · 2 setups

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  A heterozygous R124C (C417T) mutation in TGFBI was detected in all affected individuals across three unrelated Chinese pedigrees with LCD I.

  patients genomic slit pcr

• Identification of novel homologous microRNA genes in the rhesus macaque genome.

  PMID 18186931 · PMC2254598 · BMC genomics · 2008 · 8 claims · 2 setups

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  454 rhesus miRNA genes were identified in total, including 383 novel genes in addition to 71 previously reported

  rhesus genome polya

• Gene prediction in eukaryotes with a generalized hidden Markov model that uses hints from external sources.

  PMID 16469098 · PMC1409804 · BMC bioinformatics · 2006 · 7 claims · 3 setups

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  AUGUSTUS+ extends the AUGUSTUS GHMM by combining intrinsic sequence information with extrinsic hints via an extended emission alphabet, so the GHMM jointly models the DNA sequence, gene structure, and hint collection.

  chromosome genomic training ghmm-based sequence parameter

• Surfactant protein B gene variations enhance susceptibility to squamous cell carcinoma of the lung in German patients.

  PMID 12107845 · PMC2376109 · British journal of cancer · 2002 · 8 claims · 1 setups

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  The SP-B intron 4 gene variant is significantly more frequent in squamous cell lung carcinoma (SCC) patients (25.0%) than in matched controls, OR=3.2, P=0.016

  peripheral allele-specific

• Identification of biomarkers from mass spectrometry data using a "common" peak approach.

  PMID 16869977 · PMC1550264 · BMC bioinformatics · 2006 · 8 claims · 1 setups

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  "Common" peaks—those exhibited by many subjects—can be identified and used as biomarkers in high-dimensional mass spectrometry data

  serum mass

• Glucosidase-beta variations and Lewy body disorders.

  PMID 18829375 · PMC2970615 · Parkinsonism & related disorders · 2009 · 8 claims · 1 setups

  Full-text index only

  GBA pathogenic mutations were found in 3% of LBD cases versus 1% of controls, a non-significant difference (OR 3.0, 95% CI 0.3–29, p=0.3)

  post-mortem long-range

• Genome Sequencing of Methicillin-Resistant and Methicillin-Susceptible Mammaliicoccus sciuri from Diseased Animals.

  PMID 36125295 · PMC9583799 · Microbiology resource announcements · 2022 · 7 claims · 7 setups

  Has reproduction · 92

  Draft genomes of a methicillin-resistant Mammaliicoccus sciuri strain (2254A, from an armadillo) and a methicillin-susceptible strain (6942A, from a cow) are reported.

  sciuri bacterial assembled 2254a long-read maldi-tof genome