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).

Publications 1.3k Datasets 392.5k Experiments 91

System / cell line: blood ✕ Assay: same ✕ Clear

Assessing individual differences in genome-wide gene expression in human whole blood: reliability over four hours and stability over 10 months.

PMID 19653838 · PMC3819565 · Twin research and human genetics : the official journal of the International Society for Twin Studies · 2009 · 8 claims · 5 setups

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A subset of probesets (3,414) shows 4-hour test-retest reliability exceeding r=0.70 for detecting individual differences in gene expression.

blood edta reliably genome-wide twin sub-type
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
Association of DRD4 uVNTR and TP53 codon 72 polymorphisms with schizophrenia: a case-control study.

PMID 20040103 · PMC2808306 · BMC medical genetics · 2009 · 6 claims · 5 setups

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Long form DRD4 uVNTR alleles (≥5 repeats) are associated with increased risk of schizophrenia

blood-derived case-control pcr-rflp direct pcr-based
TP73 allelic expression in human brain and allele frequencies in Alzheimer's disease.

PMID 15175114 · PMC420466 · BMC medical genetics · 2004 · 8 claims · 6 setups

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A -386G/A SNP in the TP73 P3 promoter is weakly but significantly associated with AD risk in a tri-ethnic elderly population.

brain peripheral sk-nsh-n genomic rt-pcr direct snp
The minisequencing method: a simple strategy for genetic screening of MEN 2 families.

PMID 12042015 · PMC116428 · BMC genetics · 2002 · 6 claims · 4 setups

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Minisequencing reproduces the same mutation information obtained by direct sequencing of PCR products at RET codons 634 and 918 in all tested MEN 2 family members.

genomic pcr same white pcr minisequencing direct
Minisequencing mitochondrial DNA pathogenic mutations.

PMID 18402672 · PMC2377236 · BMC medical genetics · 2008 · 7 claims · 7 setups

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A minisequencing multiplex assay can interrogate 25 pathogenic mtDNA mutations across the whole mtDNA genome in a single reaction using 13 amplicons.

blood-derived same genomic pcr minisequencing automatic multiplex
APC mutation analysis by chemical cleavage of mismatch and a protein truncation assay in familial adenomatous polyposis.

PMID 7524601 · PMC2033526 · British journal of cancer · 1994 · 7 claims · 8 setups

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Chemical cleavage of mismatch (HOT) analysis combined with sequencing identified inactivating constitutional APC mutations in 9 of 10 (90%) linkage-confirmed FAP patients, far exceeding the ~30% detection rate reported in the literature.

blood pcr pcr-amplified cdna chemical sequencing single-strand
Low frequency of E-cadherin alterations in familial breast cancer.

PMID 11305955 · PMC30704 · Breast cancer research : BCR · 2001 · 8 claims · 5 setups

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No pathogenic germline E-cadherin mutations were found in 19 familial breast cancer patients whose tumours showed LOH at the E-cadherin locus

blood same tumour pcr-sscp denaturing somatic
Type 1 diabetes in the Spanish population: additional factors to class II HLA-DR3 and -DR4.

PMID 15842729 · PMC1097726 · BMC genomics · 2005 · 7 claims · 4 setups

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The ancestral haplotype AH 18.2 (DR3-TNFa1b5) confers significantly increased T1D risk compared to other DR3-positive haplotypes in the Spanish population.

blood same genotype hla microsatellite haplotype
Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.

PMID 18627636 · PMC2575532 · Breast cancer research : BCR · 2008 · 8 claims · 5 setups

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27 deleterious BRCA1/BRCA2 mutations were detected in 28 breast cancer patients (14 in BRCA1, 13 in BRCA2) among 187 tested

blood-derived family brca1 direct multiplex boadicea
Polymorphisms of delta-aminolevulinic acid dehydratase (ALAD) and peptide transporter 2 (PEPT2) genes in children with low-level lead exposure.

PMID 19723536 · PMC2789866 · Neurotoxicology · 2009 · 7 claims · 3 setups

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Children homozygous for the PEPT2*2 polymorphism have significantly higher blood lead levels than heterozygous or non-carrier children.

mexican-american buccal parents blood genetic demographic
A case of intolerance to warfarin dosing in an intermediate metabolizer of CYP2C9.

PMID 16385662 · PMC2810600 · Yonsei medical journal · 2005 · 7 claims · 2 setups

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A patient heterozygous for CYP2C9*3 (genotype CYP2C9*1/*3) developed an extremely elevated INR on standard warfarin dosing, indicating impaired warfarin metabolism.

peripheral same pcr prothrombin
The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers.

PMID 15743497 · PMC1064126 · Breast cancer research : BCR · 2005 · 7 claims · 5 setups

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The AR CAG repeat polymorphism does not modify breast cancer risk in BRCA1 mutation carriers

peripheral brca1 same simulated fluorescent cox weighted
The brain-derived neurotrophic factor rs6265 (Val66Met) polymorphism and depression in Mexican-Americans.

PMID 17632285 · PMC2686836 · Neuroreport · 2007 · 7 claims · 4 setups

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BDNF SNP rs6265 (Val66Met) is significantly associated with diagnosis of major depression in Mexican-Americans

genomic same participants genotyped snp hardy-weinberg clinical
A procedure for the detection of linkage with high density SNP arrays in a large pedigree with colorectal cancer.

PMID 17222328 · PMC1784097 · BMC cancer · 2007 · 7 claims · 8 setups

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A workflow combining Alohomora, Mega2, MENDEL, SNPLINK and SimWalk2 enables linkage analysis with high-density SNP arrays in large pedigrees (>35-40 bits) that exceed the capacity of single existing programs

peripheral pedigree nuclear family snp two-point multipoint
VEGF, FGF1, FGF2 and EGF gene polymorphisms and psoriatic arthritis.

PMID 17204151 · PMC1781940 · BMC musculoskeletal disorders · 2007 · 7 claims · 5 setups

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The T allele of VEGF +936 (rs3025039) is significantly less frequent in PsA cases than in controls, suggesting a protective effect against PsA.

blood same subject psa snp allele hardy-weinberg
Predictive genomics of cardioembolic stroke.

PMID 19064790 · PMC2752697 · Stroke · 2009 · 8 claims · 4 setups

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A Bayesian network multivariate model achieves 86% predictive accuracy (AUC) for cardioembolic stroke on fitted values

blood-derived gasros same custom bayesian roc
Methylation of class II transactivator gene promoter IV is not associated with susceptibility to multiple sclerosis.

PMID 18606010 · PMC2464579 · BMC medical genetics · 2008 · 6 claims · 4 setups

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Methylation of the MHC2TA promoter pIV is not associated with MS susceptibility; no methylation was detected in any twin sample regardless of disease status

peripheral mhc2ta pcr sanger bisulfite cpg
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
Analysis of polymorphic TGFB1 codons 10, 25, and 263 in a German patient group with non-syndromic cleft lip, alveolus, and palate compared with healthy adults.

PMID 15212689 · PMC441379 · BMC medical genetics · 2004 · 8 claims · 3 setups

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Arg25Pro heterozygous genotype is significantly less frequent in CLP patients (3.3%) than in healthy controls (16.7%)

peripheral genomic platelet-poor real-time sanger enzyme-linked

Experiments

Assessing individual differences in genome-wide gene expression in human whole blood: reliability over four hours and stability over 10 months.

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

Association of DRD4 uVNTR and TP53 codon 72 polymorphisms with schizophrenia: a case-control study.

TP73 allelic expression in human brain and allele frequencies in Alzheimer's disease.

The minisequencing method: a simple strategy for genetic screening of MEN 2 families.

Minisequencing mitochondrial DNA pathogenic mutations.

APC mutation analysis by chemical cleavage of mismatch and a protein truncation assay in familial adenomatous polyposis.

Low frequency of E-cadherin alterations in familial breast cancer.

Type 1 diabetes in the Spanish population: additional factors to class II HLA-DR3 and -DR4.

Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.

Polymorphisms of delta-aminolevulinic acid dehydratase (ALAD) and peptide transporter 2 (PEPT2) genes in children with low-level lead exposure.

A case of intolerance to warfarin dosing in an intermediate metabolizer of CYP2C9.

The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers.

The brain-derived neurotrophic factor rs6265 (Val66Met) polymorphism and depression in Mexican-Americans.

A procedure for the detection of linkage with high density SNP arrays in a large pedigree with colorectal cancer.

VEGF, FGF1, FGF2 and EGF gene polymorphisms and psoriatic arthritis.

Predictive genomics of cardioembolic stroke.

Methylation of class II transactivator gene promoter IV is not associated with susceptibility to multiple sclerosis.

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

Analysis of polymorphic TGFB1 codons 10, 25, and 263 in a German patient group with non-syndromic cleft lip, alveolus, and palate compared with healthy adults.