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).

• CHEK2 variants associate with hereditary prostate cancer.

  PMID 14612911 · PMC2394451 · British journal of cancer · 2003 · 8 claims · 6 setups

  Full-text index only

  CHEK2 1100delC frameshift mutation is significantly more frequent in Finnish HPC patients than in population controls

  index hpc unselected affected sscp sequencing minisequencing

• Resequencing of genes for transforming growth factor beta1 (TGFB1) type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy.

  PMID 17319955 · PMC1808054 · BMC medical genetics · 2007 · 7 claims · 7 setups

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  TGFβ1 is a crucial mediator in the pathogenesis of diabetic nephropathy, promoting renal hypertrophy and extracellular matrix accumulation.

  genomic healthy irish case mutation direct taqman

• Is replication the gold standard for validating genome-wide association findings?

  PMID 19112512 · PMC2605260 · PloS one · 2008 · 8 claims · 4 setups

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  The probability of replicating a specific GWA-identified variant decreases as the number of independent GWA/replication studies increases, when individual study power is less than 100%.

  simulated diallelic hypothetical four statistical marker bayesian

• PALB2 variants in hereditary and unselected Finnish prostate cancer cases.

  PMID 20003494 · PMC2806404 · Journal of negative results in biomedicine · 2009 · 8 claims · 6 setups

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  None of the detected PALB2 variants, including 1592delT, show significant association with PRCA at the population level in Finland

  blood finnish combined formalin-fixed direct additional statistical

• Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage.

  PMID 32367296 · PMC7419486 · Journal of neurology · 2020 · 8 claims · 6 setups

  Has reproduction · 78

  Sequence variants in PCNT, RNF213 and THSD1 support a role as susceptibility factors for cerebrovascular disease (UIA/aSAH)

  unrelated affected additional 75-patient exome sanger gene

• Genetic variants of Ehrlichia phagocytophila, Rhode Island and Connecticut.

  PMID 11996680 · PMC3369764 · Emerging infectious diseases · 2002 · 7 claims · 6 setups

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  All 50 E. phagocytophila-positive samples from Bridgeport, CT (1996-1998) had 16S rRNA sequences identical to the human agent (EP-ha).

  ixodes white-footed eastern pcr-positive nested sequencing cloning

• Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.

  PMID 17554261 · PMC2628541 · Nature genetics · 2007 · 8 claims · 8 setups

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  IRGM SNPs (rs13361189, rs4958847) show strong replicated association with Crohn disease; IRGM induces autophagy and control of intracellular bacteria

  wtccc replication population cases genome-wide taqman snp

• Evidence for limited genetic compartmentalization of HIV-1 between lung and blood.

  PMID 19759830 · PMC2736399 · PloS one · 2009 · 8 claims · 7 setups

  Full-text index only

  Statistical evidence of genetic compartmentalization between lung and blood HIV-1 env sequences was found in 10 of 18 subjects.

  paired lung tissue-pair pooled hiv-1 maximum statistical

• PedGenie: an analysis approach for genetic association testing in extended pedigrees and genealogies of arbitrary size.

  PMID 16620382 · PMC1459209 · BMC bioinformatics · 2006 · 7 claims · 3 setups

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  PedGenie is a valid, flexible statistical tool for genetic association analysis in pedigrees of arbitrary size and structure using Monte Carlo significance testing

  simulated gaw12 breast monte pedigree-based genetic

• The spectrum of ATM missense variants and their contribution to contralateral breast cancer.

  PMID 17393301 · PMC2137941 · Breast cancer research and treatment · 2008 · 6 claims · 3 setups

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  ATM missense variant frequency does not differ significantly between CBC and UBC patients, indicating no major impact on overall CBC risk

  germline breast denaturing sanger case-control

• Mutations in dnaA and a cryptic interaction site increase drug resistance in Mycobacterium tuberculosis.

  PMID 33253310 · PMC7738170 · PLoS pathogens · 2020 · 7 claims · 8 setups

  Has reproduction · 98

  Non-synonymous mutations in dnaA are statistically associated with drug resistance (INH, RIF, SM) in clinical M. tuberculosis strains across two independent GWAS cohorts (China and Vietnam)

  clinical dnaa isogenic h37rv genome-wide structural deep-sequencing

• Mutation analysis of the MSMB gene in familial prostate cancer.

  PMID 19997100 · PMC2816656 · British journal of cancer · 2010 · 8 claims · 5 setups

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  No deleterious mutations were found in the MSMB coding region in 192 familial prostate cancer cases

  germline blood 161-nt genotype sanger taqman transcription

• PCR-free method detects high frequency of genomic instability in prostate cancer.

  PMID 19797393 · PMC2794161 · Nucleic acids research · 2009 · 7 claims · 6 setups

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  A novel PCR-free random cloning/sequencing method can detect genomic variants that PCR-based approaches miss in heterogeneous tumor genomes.

  blood normal prostate matched pcr-free degenerate-pcr blastn

• Association of MUTYH and colorectal cancer.

  PMID 16804517 · PMC2360610 · British journal of cancer · 2006 · 7 claims · 3 setups

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  Bi-allelic MUTYH mutations confer a very large increase in colorectal cancer risk (GRR=117), supporting a causal role in colorectal cancer

  blood pooled genotype genotyping meta-analysis chi-square

• The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures.

  PMID 15799783 · PMC1079842 · BMC medical genetics · 2005 · 7 claims · 4 setups

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  The GABBR1 G1465A polymorphism is not associated with TLE preceded by febrile seizures, failing to replicate the prior positive association

  peripheral clinical pcr-rflp single sequencing

• A novel variable number of tandem repeat of the natriuretic peptide precursor B gene's 5'-flanking region is associated with essential hypertension among Japanese females.

  PMID 17554401 · PMC1885554 · International journal of medical sciences · 2007 · 8 claims · 6 setups

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  A novel VNTR polymorphism (TTTC repeat) was discovered at -1241 nucleotides in the 5'-flanking region of NPPB, with 8 alleles ranging from 9 to 19 repeats.

  genomic plasma serum n=317 pcr-sscp nucleotide genotyping

• Recurrent RNA edits in human preimplantation potentially enhance maternal mRNA clearance.

  PMID 36543858 · PMC9772385 · Communications biology · 2022 · 8 claims · 7 setups

  Has reproduction · 100

  Compiled the largest human embryonic A-to-I editome to date from 2071 RNA-seq transcriptomes and identified thousands of per-stage Recurrent Embryonic Edits (REEs, present in ≥50% of samples per stage)

  preimplantation single uniparental embryos rna-seq paired gene

• Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity.

  PMID 36928603 · PMC10101853 · Nature genetics · 2023 · 8 claims · 6 setups

  Has reproduction · 80

  The WHO histopathological classification of MPM accounts for only up to ~10% of interpatient molecular differences

  mpm mesomics whole-genome bulk methylation

• Mutation analysis of the ATR gene in breast and ovarian cancer families.

  PMID 15987455 · PMC1175065 · Breast cancer research : BCR · 2005 · 8 claims · 5 setups

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  ATR mediates the DNA damage response by phosphorylating tumor suppressors such as p53, BRCA1 and CHK1, making it a plausible candidate breast/ovarian cancer susceptibility gene

  index atr variant mutation direct variant

• A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan.

  PMID 17187665 · PMC1764029 · BMC neurology · 2006 · 6 claims · 4 setups

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  The G2385R variant in LRRK2 contributes significantly to the etiology of PD in ethnic Han Chinese individuals

  peripheral g2385r patients genotype pcr full clinical