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).

• The Neandertal genome and ancient DNA authenticity.

  PMID 19661919 · PMC2725275 · The EMBO journal · 2009 · 8 claims · 6 setups

  Full-text index only

  Only direct assays of DNA sequence positions where Neandertals differ from all contemporary humans can reliably estimate human contamination.

  neandertal pcr high-throughput genome

• Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.

  PMID 40963120 · PMC12445032 · Genome medicine · 2025 · 7 claims · 4 setups

  Has reproduction · 88

  Trio genome sequencing (tGS) achieves higher prospective diagnostic yield than standard-of-care (SoC) and singleton genome sequencing (sGS) even when performed by a newly trained team.

  individuals index blood short-read exome array

• LaSSO, a strategy for genome-wide mapping of intronic lariats and branch points using RNA-seq.

  PMID 24709818 · PMC4079972 · Genome research · 2014 · 8 claims · 8 setups

  Has reproduction · 68

  LaSSO (Lariat Sequence Site Origin) identifies intronic lariat reads and pinpoints branch points genome-wide from RNA-seq data by considering every intronic base as a potential branch point and including all possible exon-skipping lariats.

  schizosaccharomyces pombe rna-seq lasso lariat-specific

• Molecular analysis of a leprosy immunotherapeutic bacillus provides insights into Mycobacterium evolution.

  PMID 17912347 · PMC1989137 · PloS one · 2007 · 8 claims · 8 setups

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  MIP is the evolutionary predecessor/ancestor of the pathogenic Mycobacterium avium intracellulare complex (MAIC), having retained a free-living lifestyle rather than undergoing parasitic reductive genome evolution

  mip diagnostic is900-specific pgg

• Targeted KRAS mutation assessment on patient tumor histologic material in real time diagnostics.

  PMID 19888477 · PMC2768905 · PloS one · 2009 · 8 claims · 5 setups

  Full-text index only

  Q-PCR methods yield informative KRAS mutation results even on very fragmented FFPE-DNA where dideoxy-sequencing fails (p<0.0001)

  ffpe dideoxy-sequencing taqman-mgb dxs-kras

• Machine learning algorithm predicts fibrosis-related blood diagnosis markers of intervertebral disc degeneration.

  PMID 37915003 · PMC10619283 · BMC medical genomics · 2023 · 7 claims · 7 setups

  Has reproduction · 68

  CEP120 and SPDL1 are fibrosis-related diagnostic genes for IDD, identified via a random forest model from 29 differentially expressed fibrosis-related genes

  blood gse150408 prediction pbmcs bulk machine roc

• Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

  PMID 39039281 · PMC11319204 · Nature genetics · 2024 · 6 claims · 5 setups

  Has reproduction · 87

  A structured multidisciplinary exome sequencing framework established molecular genetic diagnoses in 32% of patients with suspected ultrarare disorders, comprising 370 distinct molecular causes.

  patients exome deep computer-assisted

• Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing.

  PMID 11710958 · PMC59832 · BMC genetics · 2001 · 7 claims · 6 setups

  Full-text index only

  DHPLC screening combined with direct sequencing detects likely disease-causative point mutations in the dystrophin gene missed by multiplexed PCR deletion/duplication testing

  genomic muscle blood direct dhplc multiplexed

• Country-wide assessment of the genetic polymorphism in Plasmodium falciparum and Plasmodium vivax antigens detected with rapid diagnostic tests for malaria.

  PMID 18957099 · PMC2582241 · Malaria journal · 2008 · 7 claims · 8 setups

  Full-text index only

  pfhrp2 and pfhrp3 genes show markedly higher polymorphism than the P. falciparum and P. vivax aldolase and pldh genes

  falciparum vivax extracted febrile pcr nested species-specific

• Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

  PMID 18546365 · PMC2891192 · Human mutation · 2008 · 8 claims · 4 setups

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  POLG mutations cause at least 6 major heterogeneous phenotypes of neurodegenerative mitochondrial disease (MCHS, Alpers syndrome, ANS, MEMSA, arPEO, adPEO)

  blood parental model sanger parental microsatellite

• Recombination events restored the functional horned haplotypes in the offspring of polled parents.

  PMID 41174470 · PMC12579413 · Genetics, selection, evolution : GSE · 2025 · 8 claims · 7 setups

  Has reproduction · 98

  In the Holstein-Friesian (HF) trio, the horned offspring arose from non-allelic homologous recombination in the gametes of the P_F/P_F sire.

  trio fleckvieh whole-genome snp pcr-based

• Sequencing of 16S rRNA gene: a rapid tool for identification of Bacillus anthracis.

  PMID 12396926 · PMC2730316 · Emerging infectious diseases · 2002 · 7 claims · 4 setups

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  All 86 B. anthracis isolates tested share an identical 16S rRNA gene sequence, designated 16S type 6

  bacillus clinical additional 16s nested comparative

• Molecular epidemiology of DFNB1 deafness in France.

  PMID 15070423 · PMC385234 · BMC medical genetics · 2004 · 8 claims · 7 setups

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  35delG remains the most common pathogenic GJB2 mutation in the studied French (Languedoc Roussillon) population despite being less frequent than in other Mediterranean populations

  gjb2 dried genomic deaf dhplc pcr-mediated pcr-dhplc

• Progressive nonfluent aphasia associated with a new mutation V363I in tau gene.

  PMID 17712160 · PMC10846119 · American journal of Alzheimer's disease and other dementias · 2007 · 7 claims · 5 setups

  Full-text index only

  A novel heterozygous MAPT mutation (2274 G→A, exon 12, causing V363I) was identified in the proband, 2 of 3 tested children, and 1 sibling, but not in 194 healthy control individuals from the same population.

  genomic proband proband's pcr tau neuropsychological

• A newly identified insertion mutation in the thyroid hormone receptor-beta gene in a Korean family with generalized thyroid hormone resistance.

  PMID 17596672 · PMC2693656 · Journal of Korean medical science · 2007 · 7 claims · 8 setups

  Full-text index only

  Two members of a Korean family (mother and son) with generalized RTH harbor a novel insertion mutation, 1358_1359insC, in exon 10 of the THRB gene, causing a frameshift (Leu454PhefsX11)

  peripheral serum thyroid pcr radioimmunoassay thyroid

• Metagenomic analysis of human diarrhea: viral detection and discovery.

  PMID 18398449 · PMC2290972 · PLoS pathogens · 2008 · 8 claims · 7 setups

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  Micro-mass sequencing (minimal stool input, minimal purification, ~384 reads/sample) can detect known enteric viruses in diarrhea specimens

  stool divergent extract preparations sequence-independent maximum enzyme

• Mutation analysis in primary immunodeficiency diseases: case studies.

  PMID 19841577 · PMC2774237 · Current opinion in allergy and clinical immunology · 2009 · 8 claims · 8 setups

  Full-text index only

  Genomic DNA Sanger sequencing is the standard first-line approach for identifying PIDD-causing mutations but has limitations that can yield false-negative or false-positive results

  mother parents ebv-transformed nemo genomic flow northern

• Exploring the prognostic and diagnostic value of lactylation-related genes in sepsis.

  PMID 39367086 · PMC11452377 · Scientific reports · 2024 · 8 claims · 7 setups

  Has reproduction · 73

  Intersecting sepsis-associated differentially expressed genes with a curated list of 332 lactylation genes yields 55 sepsis-related lactylation genes.

  peripheral overlapping geo pbmcs bulk kegg protein-protein

• A four-gene signature from blood to exclude bacterial etiology of lower respiratory tract infection in adults.

  PMID 41285807 · PMC12644739 · Nature communications · 2025 · 8 claims · 8 setups

  Has reproduction · 94

  A 4-gene whole-blood signature (ITGB4, ITGA7, IFI27, FAM20A) discriminates any bacterial from nonbacterial ARI with cross-validated AUC = 0.90

  hospitalized ari febrile infection bulk rna-seq microarray

• LRP1 as a potential diagnostic and immunomodulatory target in endometriosis: evidence from multi-omics and single-cell analyses.

  PMID 42064072 · PMC13124487 · Frontiers in immunology · 2026 · 7 claims · 8 setups

  Has reproduction · 49

  LRP1 is the top hub gene with the highest diagnostic performance for distinguishing ectopic from eutopic endometrium in EMS

  ectopic geo training gwas microarray wgcna machine