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).

• Detecting DNA modifications from SMRT sequencing data by modeling sequence context dependence of polymerase kinetic.

  PMID 23516341 · PMC3597545 · PLoS computational biology · 2013 · 8 claims · 7 setups

  Has reproduction · 44

  Local sequence context strongly determines position-specific polymerase kinetic rate: roughly 80% of IPD variation is explained by a 10 bp context (7 bases upstream, 2 bases downstream of the incorporation site), saturating at 7 bases upstream.

  plasmid coli wild-type artificial smrt read-mixing distributional

• Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer.

  PMID 12100744 · PMC116720 · Breast cancer research : BCR · 2002 · 8 claims · 4 setups

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  Germline BRCA1 and BRCA2 mutations are present in Iranian women with early-onset breast cancer, including four novel frameshift mutations

  genomic pcr-amplified pcr truncation single-strand heteroduplex

• Sequence variations of GRM6 in patients with high myopia.

  PMID 19862333 · PMC2765235 · Molecular vision · 2009 · 7 claims · 8 setups

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  Three novel GRM6 variations with predicted functional consequences (c.67-82delCAGGCGGGCCTGGCGCinsT, c.858-5a>g, c.1537G>A) were found in high myopia patients but absent in 96 controls

  genomic pcr mglur6 grm6 pcr heteroduplex pcr-restriction

• Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

  PMID 15701167 · PMC551615 · BMC medical genetics · 2005 · 8 claims · 6 setups

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  21 rare sequence variations of the LDL receptor gene were identified in St.-Petersburg FH patients, 19 of which are probably pathogenic and 2 (P518P, T705I) neutral.

  genomic pcr proband restriction sscp automated

• Mutations in the ST7/RAY1/HELG locus rarely occur in primary colorectal, gastric, and hepatocellular carcinomas.

  PMID 12799635 · PMC2741100 · British journal of cancer · 2003 · 7 claims · 4 setups

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  ST7 gene mutations are rare in primary colorectal, gastric, and hepatocellular carcinomas

  colorectal pcr same clinicopathological pcr-single-strand direct microsatellite

• PAX6 gene variations associated with aniridia in south India.

  PMID 15086958 · PMC419353 · BMC medical genetics · 2004 · 7 claims · 5 setups

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  Mutations in PAX6 cause the aniridia phenotype via haploinsufficiency (loss-of-function/null alleles)

  genomic pcr aniridia sscp automated allele-specific

• Identification of polymorphisms and balancing selection in the male infertility candidate gene, ornithine decarboxylase antizyme 3.

  PMID 16542438 · PMC1526716 · BMC medical genetics · 2006 · 8 claims · 6 setups

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  Mutations in the OAZ3 gene are not a common cause of male infertility

  genomic coding inferred oaz3 direct sscp haplotype

• Discrimination of double primary lung cancer from intrapulmonary metastasis by p53 gene mutation.

  PMID 10188905 · PMC2362717 · British journal of cancer · 1999 · 7 claims · 3 setups

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  p53 mutation patterns can be used as a clonal marker to discriminate double primary lung cancer from intrapulmonary metastasis in synchronous double lung tumours.

  paraffin-embedded pcr lung pcr-single-strand sequencing extraction

• Search for genetic variants in the p66Shc longevity gene by PCR-single strand conformational polymorphism in patients with early-onset cardiovascular disease.

  PMID 16519809 · PMC1420326 · BMC genetics · 2006 · 7 claims · 2 setups

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  p66Shc gene increases intracellular reactive oxygen species (ROS), affecting the rate of oxidative damage to nucleic acids

  genomic pcr-single direct

• Infrequent mutation of the H-cadherin gene on chromosome 16q24 in human breast cancers.

  PMID 9330599 · PMC5921496 · Japanese journal of cancer research : Gann · 1997 · 4 claims · 2 setups

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  Mutation of the H-cadherin gene is very infrequent in primary breast cancers with 16q loss

  pcr-single sequencing

• Mutational analysis of CDKN2 (CDK4I/MTS1) gene in tissues and cell lines of human prostate cancer.

  PMID 7559077 · PMC5920883 · Japanese journal of cancer research : Gann · 1995 · 5 claims · 4 setups

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  Mutation of the CDKN2 gene is rare in prostate cancer tissues, occurring in only 1 of 51 (2%) patients

  tumor four pcr-sscp direct

• BRAF mutations in non-Hodgkin's lymphoma.

  PMID 14612909 · PMC2394455 · British journal of cancer · 2003 · 7 claims · 4 setups

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  BRAF is somatically mutated in a subset of NHLs (4/164, 2.4%)

  nhl reamplified haematoxylin-eosin-stained pcr-sscp sequencing microdissection

• Crystallin gene mutations in Indian families with inherited pediatric cataract.

  PMID 18587492 · PMC2435160 · Molecular vision · 2008 · 8 claims · 5 setups

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  Crystallin gene mutations account for 16.6% of inherited pediatric cataract in this south Indian population

  genomic pcr affected pediatric single direct restriction

• Protective effect of paraoxonase 1 gene variant Gln192Arg in age-related macular degeneration.

  PMID 20042177 · PMC3026437 · American journal of ophthalmology · 2010 · 6 claims · 4 setups

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  The Gln192Arg PON1 polymorphism is associated with decreased susceptibility to AMD, particularly wet AMD, indicating a protective effect

  genomic pcr-amplified case-control pon1 single-strand direct genetic

• Mutation analysis of the c-mos proto-oncogene in human ovarian teratomas.

  PMID 9635841 · PMC2150066 · British journal of cancer · 1998 · 6 claims · 3 setups

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  Mutations in the coding region of the c-MOS gene do not play a significant role in the genesis of human ovarian teratomas

  ovarian single-strand heteroduplex sequencing

• Analysis of BRCA1 and BRCA2 mutations in Brazilian breast cancer patients with positive family history.

  PMID 16389418 · PMC11060407 · Sao Paulo medical journal = Revista paulista de medicina · 2005 · 8 claims · 2 setups

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  BRCA1 or BRCA2 mutations were detected in 4 of 31 (13%) Brazilian breast cancer patients with positive family history

  genomic single-strand direct

• Mutation of the nm23 gene, loss of heterozygosity at the nm23 locus and K-ras mutation in ovarian carcinoma: correlation with tumour progression and nm23 gene expression.

  PMID 7669582 · PMC2033876 · British journal of cancer · 1995 · 8 claims · 5 setups

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  A novel missense mutation (TGG→CGG, Trp133→Arg) in nm23-H2 was found in one stage III serous ovarian carcinoma

  ovarian case matched same pcr-sscp subcloning loh

• Mutation of the p53 gene precedes aneuploid clonal divergence in colorectal carcinoma.

  PMID 7841032 · PMC2033599 · British journal of cancer · 1995 · 7 claims · 5 setups

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  p53 mutation occurs as a single clonal event that precedes and may facilitate aneuploid clonal divergence in colorectal carcinoma

  tumour plpd-fixed frozen pcr-sscp dideoxy restriction

• BRCA1 mutations in southern England.

  PMID 9649133 · PMC2150412 · British journal of cancer · 1998 · 7 claims · 4 setups

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  Early age of onset combined with a strong family history is the most effective selection criterion for detecting BRCA1 mutations, more so than bilaterality alone

  genomic pcr clinical heteroduplex sequencing pcr

• Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3.

  PMID 10098735 · PMC2362253 · British journal of cancer · 1999 · 7 claims · 6 setups

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  The FAA gene is not the gene targeted by LOH at 16q24.3 in breast cancer

  breast tumour sscp exon-by-exon southern