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 47

System / cell line: allele ✕ Assay: repeat ✕ Clear

Machine-learning approaches for classifying haplogroup from Y chromosome STR data.

PMID 18551166 · PMC2396484 · PLoS computational biology · 2008 · 8 claims · 5 setups

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Y-STR allelic variability is partitioned more by differences among haplogroups than by differences among populations, suggesting Y-STRs carry haplogroup information

globally same computational publicly y-str snp supervised
Effect of the 3'APOB-VNTR polymorphism on the lipid profiles in the Guangxi Hei Yi Zhuang and Han populations.

PMID 17640344 · PMC1939985 · BMC medical genetics · 2007 · 8 claims · 5 setups

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Significant differences in 3'APOB-VNTR allele and genotype frequencies exist between Hei Yi Zhuang and Han populations

population serum genomic epidemiological enzymatic immunoturbidimetric
Dinucleotide repeat polymorphism in Fms-like tyrosine kinase-1 (Flt-1) gene is not associated with preeclampsia.

PMID 18631405 · PMC2496902 · BMC medical genetics · 2008 · 7 claims · 2 setups

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The Flt-1 d(TG)n repeat polymorphism is not associated with the development of preeclampsia in Korean pregnant women

genomic same pcr clinical
Tissue plasminogen activator and plasminogen activator inhibitor type 1 gene polymorphism in patients with gastric ulcer complicated with bleeding.

PMID 12589088 · PMC3054991 · Journal of Korean medical science · 2003 · 6 claims · 5 setups

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The t-PA I/D or D/D genotype is significantly associated with duodenal (vs gastric) ulcer location

genomic randomly patients endoscopic allele-specific pcr logistic
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 (CTG)n polymorphism in the NOTCH4 gene is not associated with schizophrenia in Japanese individuals.

PMID 11407996 · PMC32311 · BMC psychiatry · 2001 · 6 claims · 4 setups

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No significant differences in genotype or allele frequencies of the NOTCH4 (CTG)n repeat were found between schizophrenia patients and controls

genomic pcr genotype pcr-based direct pcr
Rapid detection of allele loss in colorectal tumours using microsatellites and fluorescent DNA technology.

PMID 8512811 · PMC1968523 · British journal of cancer · 1993 · 6 claims · 3 setups

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Fluorescently labelled microsatellite PCR products analysed on an automated DNA sequencer allow rapid, automated quantitation (peak size, height, area) of allele loss, avoiding drawbacks of radioactive RFLP analysis.

fresh-frozen paired pcr genomic fluorescent automated
Polymorphic repeat in AIB1 does not alter breast cancer risk.

PMID 11056690 · PMC13920 · Breast cancer research : BCR · 2000 · 7 claims · 3 setups

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AIB1 alleles with 26 or fewer glutamine repeats are not associated with increased breast cancer risk in the general population

peripheral cohort plasma pcr nested plasma
Surfactant protein B gene variations enhance susceptibility to squamous cell carcinoma of the lung in German patients.

PMID 12107845 · PMC2376109 · British journal of cancer · 2002 · 8 claims · 1 setups

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The SP-B intron 4 gene variant is significantly more frequent in squamous cell lung carcinoma (SCC) patients (25.0%) than in matched controls, OR=3.2, P=0.016

peripheral allele-specific
Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.

PMID 35296718 · PMC8927422 · Scientific reports · 2022 · 8 claims · 8 setups

Has reproduction · 84

Four FBN1-negative patients from three families with a MASS-like phenotype carry likely pathogenic or uncertain-significance missense variants in the propeptide-coding regions of COL2A1

blood-derived four patients col2a1 targeted clinical transthoracic
Polymorphism at the C-reactive protein locus influences gene expression and predisposes to systemic lupus erythematosus.

PMID 14645206 · PMC3707088 · Human molecular genetics · 2004 · 8 claims · 5 setups

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The minor (rare) allele of CRP SNP 'CRP 4' is associated/linked with development of SLE in family-based transmission studies.

crp simplex same serum direct family-based linkage
A universal mechanism ties genotype to phenotype in trinucleotide diseases.

PMID 18039028 · PMC2082501 · PLoS computational biology · 2007 · 8 claims · 5 setups

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A universal mechanism of somatic, length-dependent trinucleotide repeat expansion toward a disease-specific pathological threshold explains genotype-phenotype correlations common to trinucleotide diseases

dominant recessive patients homozygous computer mathematical
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
Short tandem repeat sequences in the Mycoplasma genitalium genome and their use in a multilocus genotyping system.

PMID 18664269 · PMC2515158 · BMC microbiology · 2008 · 8 claims · 7 setups

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18 STR loci (1-5 base repeat units, copy number 4-26) were identified in the M. genitalium G37 genome via bioinformatics analysis.

genitalium clinical selected 246-bp bioinformatics pcr plasmid
A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.

PMID 18246032 · PMC2267738 · Molecular vision · 2008 · 8 claims · 6 setups

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A novel c.812G>T transversion in exon 9 of FRMD7, causing p.C271F, is the causative mutation for XLICN in this family

affected family blood frmd7 microsatellite direct denaturing
Detection of BRAF mutations in the tumour and serum of patients enrolled in the AZD6244 (ARRY-142886) advanced melanoma phase II study.

PMID 19861964 · PMC2778539 · British journal of cancer · 2009 · 7 claims · 8 setups

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BRAF mutations can be detected in serum cfDNA of advanced melanoma patients using an ARMS allele-specific PCR assay

serum-derived tumour serum ht29 arms sanger topo
Proximal 6q, a region showing allele loss in primary breast cancer.

PMID 7841042 · PMC2033574 · British journal of cancer · 1995 · 8 claims · 1 setups

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A proximal region of 6q (6q13 to 6q16.3-q21) shows a markedly elevated frequency of allelic imbalance (mean 35.3%) across seven microsatellite markers, higher than background AI levels.

paired microsatellite
SNPmasker: automatic masking of SNPs and repeats across eukaryotic genomes.

PMID 16845091 · PMC1538889 · Nucleic acids research · 2006 · 8 claims · 4 setups

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SNPmasker is a web service combining SNP masking and repeat masking, supporting both coordinate-defined and homology-search-defined input regions, a combination not offered by prior tools

genome reference genomic runtime sequence comparative
A dispermic chimera with mixed field blood group B and mosaic 46,XY/47,XYY karyotype.

PMID 17596670 · PMC2693654 · Journal of Korean medical science · 2007 · 7 claims · 7 setups

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The propositus shows mixed-field agglutination with anti-B that mimics the B3 ABO subtype but is not caused by a B3 allele.

propositus relatives serologic allele-specific haplotype-specific
Comparative genomic profiling of Dutch clinical Bordetella pertussis isolates using DNA microarrays: identification of genes absent from epidemic strains.

PMID 18590534 · PMC2481270 · BMC genomics · 2008 · 8 claims · 6 setups

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B. pertussis strains carrying the ptxP3 allele gradually replaced ptxP1 strains and became predominant from 1998, coinciding with the Dutch pertussis resurgence

dutch additional pertussis ptxp3 multi-locus multiple-locus microarray-based

Experiments

Machine-learning approaches for classifying haplogroup from Y chromosome STR data.

Effect of the 3'APOB-VNTR polymorphism on the lipid profiles in the Guangxi Hei Yi Zhuang and Han populations.

Dinucleotide repeat polymorphism in Fms-like tyrosine kinase-1 (Flt-1) gene is not associated with preeclampsia.

Tissue plasminogen activator and plasminogen activator inhibitor type 1 gene polymorphism in patients with gastric ulcer complicated with bleeding.

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

The (CTG)n polymorphism in the NOTCH4 gene is not associated with schizophrenia in Japanese individuals.

Rapid detection of allele loss in colorectal tumours using microsatellites and fluorescent DNA technology.

Polymorphic repeat in AIB1 does not alter breast cancer risk.

Surfactant protein B gene variations enhance susceptibility to squamous cell carcinoma of the lung in German patients.

Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.

Polymorphism at the C-reactive protein locus influences gene expression and predisposes to systemic lupus erythematosus.

A universal mechanism ties genotype to phenotype in trinucleotide diseases.

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.

Short tandem repeat sequences in the Mycoplasma genitalium genome and their use in a multilocus genotyping system.

A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.

Detection of BRAF mutations in the tumour and serum of patients enrolled in the AZD6244 (ARRY-142886) advanced melanoma phase II study.

Proximal 6q, a region showing allele loss in primary breast cancer.

SNPmasker: automatic masking of SNPs and repeats across eukaryotic genomes.

A dispermic chimera with mixed field blood group B and mosaic 46,XY/47,XYY karyotype.

Comparative genomic profiling of Dutch clinical Bordetella pertussis isolates using DNA microarrays: identification of genes absent from epidemic strains.