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).

• Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.

  PMID 18682814 · PMC2493031 · Molecular vision · 2008 · 8 claims · 6 setups

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  dHPLC detected the paternally inherited fetal CRB1 mutation (p.Cys896ter) in maternal plasma collected at 12 weeks gestation

  maternal serial genomic chorion dhplc automated pcr

• Effects of HIV type-1 immune selection on susceptability to integrase inhibitor resistance.

  PMID 19918099 · PMC4155129 · Antiviral therapy · 2009 · 8 claims · 6 setups

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  Primary integrase inhibitor resistance mutations (T66I, E92Q, G140S, Y143C/H/R, Q148H/R/K, N155S/H) were absent in 342 drug-naive individuals, indicating these sites are highly constrained.

  plasma genomic viral aligned bulk sequence-based quantitative

• HIV-1 evolution following transmission to an HLA-B*5801-positive patient.

  PMID 19909081 · PMC2779566 · The Journal of infectious diseases · 2009 · 8 claims · 8 setups

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  Multiple escape mutations developed rapidly in HLA-B*5801-restricted epitopes in Gag, Nef, and Pol following transmission

  plasma transmitter subject genomic full-length population ifn-γ

• Genomics Define Malignant Transformation in Myeloma Precursor Conditions.

  PMID 41061199 · PMC12614327 · Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2026 · 8 claims · 6 setups

  Has reproduction · 78

  Genomics can identify malignant transformation in MGUS and SMM, defining biologically distinct subsets termed genomic MM and genomic MGUS that are indistinguishable from or distinct from MM at the genomic level.

  cd138+ mgus bone whole-exome whole-genome cnv

• Ultra-deep sequencing data from a liquid biopsy proficiency study demonstrating analytic validity.

  PMID 35418127 · PMC9008010 · Scientific data · 2022 · 6 claims · 5 setups

  Has reproduction · 87

  This dataset is the most comprehensive public-facing dataset of ultra-deep ctDNA sequencing data generated to date

  contrived enzymatically extracted targeted

• Clinical and genotypic findings in HIV-infected patients with the K65R mutation failing first-line antiretroviral therapy in Nigeria.

  PMID 19644383 · PMC2815152 · Journal of acquired immune deficiency syndromes (1999) · 2009 · 8 claims · 3 setups

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  K65R mutation is present in a substantial proportion (10.9%) of Nigerian patients failing first-line ART, including many with no prior tenofovir exposure

  plasma k65r-positive hiv-1 comparative clinical

• HIV-1 gp120 N-linked glycosylation differs between plasma and leukocyte compartments.

  PMID 18215327 · PMC2265691 · Virology journal · 2008 · 8 claims · 6 setups

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  N-linked glycosylation of HIV-1 gp120 differs between plasma and leukocyte compartments

  plasma hiv-1 nlg presence env phylogenetic signature

• Structural modeling and functional characterization of a novel gain-of-function TLR8 variant causing severe inflammatory syndrome.

  PMID 41729082 · PMC12956005 · JCI insight · 2026 · 8 claims · 8 setups

  Has reproduction · 89

  TLR8 A518T is a gain-of-function variant that enhances NF-κB activation and increases secretion of proinflammatory cytokines upon stimulation compared with WT TLR8

  plasma pbmcs expressing tlr8 targeted plasma quantitative

• Genetic variants of adiponectin receptor 2 are associated with increased adiponectin levels and decreased triglyceride/VLDL levels in patients with metabolic syndrome.

  PMID 16700915 · PMC1482678 · Cardiovascular diabetology · 2006 · 8 claims · 6 setups

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  A haplotype of three AdipoR2 variants (+795G/A, +870C/A, +963C/T) in perfect linkage disequilibrium is associated with higher plasma adiponectin levels and lower fasting triglyceride, VLDL-triglyceride, and VLDL-cholesterol levels

  peripheral plasma subjects adipor1 sequencing plasma preparative

• Genetic variation of SARS coronavirus in Beijing Hospital.

  PMID 15200810 · PMC3323231 · Emerging infectious diseases · 2004 · 8 claims · 4 setups

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  113 sequence variations at 9 recurrent variant sites were identified in 29 full-length S-gene sequences compared to the BJ01 reference strain

  clinical extracted rna-derived cloned nested screening direct

• Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.

  PMID 17223989 · PMC1859977 · Clinical endocrinology · 2007 · 7 claims · 5 setups

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  MC2R mutations can be found in children diagnosed with salt-losing forms of adrenal hypoplasia

  genomic plasma children direct plasma standard

• Associations between hepatitis B virus genotype and mutants and the risk of hepatocellular carcinoma.

  PMID 18695135 · PMC2518166 · Journal of the National Cancer Institute · 2008 · 8 claims · 7 setups

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  HBV genotype C is an independent risk factor for HCC compared with genotype B

  plasma serum cohort epidemiological real-time direct radioimmunoassay

• Timing constraints of in vivo gag mutations during primary HIV-1 subtype C infection.

  PMID 19890401 · PMC2768328 · PloS one · 2009 · 7 claims · 7 setups

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  Reverse mutations to the wild type (HIV-1C consensus) in Gag appear significantly earlier than escape mutations from the wild type during primary infection

  hiv-1 same sequenced gag single-genome mhc hypermutation

• Dissecting lncRNA-mRNA competitive regulatory network in human islet tissue exosomes of a type 1 diabetes model reveals exosome miRNA markers.

  PMID 36440209 · PMC9682028 · Frontiers in endocrinology · 2022 · 6 claims · 7 setups

  Has reproduction · 50

  lncRNA-mRNA ceRNA networks differ substantially between control and cytokine-treated islet exosomes, sharing lncRNAs more than mRNAs, implying state-dependent regulatory functions

  pancreatic database-derived plasma saliva sequencing exosome lncrna-mirna

• Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension.

  PMID 15661075 · PMC547905 · BMC medical genetics · 2005 · 8 claims · 7 setups

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  Heterozygous carriage of common βENaC/γENaC variants (G589S, i12-17CT, V546I) is significantly more prevalent in essential hypertension patients (9.2%) than in normotensive males (2.9%) or blood donors (3.0%)

  hypertensive lymphocytes βenac xenopus targeted pcr-rflp plasma

• Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.

  PMID 17076561 · PMC1626556 · PLoS medicine · 2006 · 6 claims · 7 setups

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  Affected members of a previously genetically unsolved aHUS family carry a heterozygous CFH/CFHL1 hybrid gene (exons 1-21 from CFH, exons 22/23 from CFHL1)

  peripheral genomic convalescent cdna genomic breakpoint-spanning

• Adaptation to different human populations by HIV-1 revealed by codon-based analyses.

  PMID 16789820 · PMC1480537 · PLoS computational biology · 2006 · 8 claims · 8 setups

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  Developed two fixed effects maximum likelihood methods: one to detect selection that persists in a population (internal vs. terminal branches) and one to detect differential selection on codons between two populations.

  hiv-1 four simulated population-based maximum bayesian

• Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3).

  PMID 16412238 · PMC1368963 · BMC medical genetics · 2006 · 8 claims · 6 setups

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  A novel PPARG nonsense mutation, Y355X, was identified in a mother and daughter with FPLD3-consistent phenotypes and was absent from unaffected relatives and 260 healthy controls

  subjects nih3t3 subject healthy sequencing luciferase western

• A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.

  PMID 18625664 · PMC2692309 · Pediatrics · 2008 · 8 claims · 8 setups

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  NPD type B involves multisystem disease including hepatosplenomegaly, interstitial lung disease, dyslipidemia, thrombocytopenia, and growth delay

  leukocyte peripheral serum plasma gene enzyme chitotriosidase

• Angiotensin I-converting enzyme mutation (Trp1197Stop) causes a dramatic increase in blood ACE.

  PMID 20011602 · PMC2788243 · PloS one · 2009 · 8 claims · 8 setups

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  A novel heterozygous Trp1197Stop (W1197X) mutation in the ACE gene causes a 13-fold increase in blood ACE activity in an African-American family

  plasma genomic cho heparinized ace plate conformational