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 784

System / cell line: blood ✕ Clear

Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.

PMID 19775295 · PMC2783282 · British journal of haematology · 2009 · 8 claims · 4 setups

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ELANE mutations were detected in 90 of 162 SCN patients (55.6%), making it the most commonly mutated gene in SCN.

peripheral whole-genome-amplified gfi1 sanger high-throughput sift
Pathogenesis of vestibular schwannoma in ring chromosome 22.

PMID 19772601 · PMC2758865 · BMC medical genetics · 2009 · 8 claims · 7 setups

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Tumours in ring chromosome 22 patients arise from the combination of loss of the ring chromosome (first hit) and a pathogenic somatic NF2 mutation on the remaining chromosome 22 (second hit)

peripheral schwann skin-biopsy vestibular karyotyping fish array
Expanding CEP290 mutational spectrum in ciliopathies.

PMID 19764032 · PMC4340070 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups

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A large heterozygous genomic deletion spanning the CEP290 C-terminus (exons 42-54) was identified in a JSRD-COR patient previously known to carry only one CEP290 point mutation.

peripheral genomic quantitative cdna pcr
Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.

PMID 19744334 · PMC2754984 · Journal of translational medicine · 2009 · 8 claims · 8 setups

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GJB2 mutations account for 18.31% (52/284) of patients with nonsyndromic hearing loss

peripheral patients mtdna slc26a4 pcr pcr-based sanger
Swarm intelligence based wavelet coefficient feature selection for mass spectral classification: an application to proteomics data.

PMID 19733729 · PMC2748225 · Analytica chimica acta · 2009 · 8 claims · 4 setups

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ACA-based wavelet coefficient feature selection can achieve up to 100% classification accuracy on training, validating, and independent testing sets using only 5 selected features.

blood baseline-corrected 953-dimensional training seldi-tof wavelet ant
Replication by the Epistasis Project of the interaction between the genes for IL-6 and IL-10 in the risk of Alzheimer's disease.

PMID 19698145 · PMC2744667 · Journal of neuroinflammation · 2009 · 8 claims · 4 setups

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IL6 rs2069837 AA x IL10 rs1800871 CC interaction is associated with increased AD risk (synergy factor 1.63)

blood-derived pooled snp genome-wide logistic
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
Brain progranulin expression in GRN-associated frontotemporal lobar degeneration.

PMID 19649643 · PMC3104467 · Acta neuropathologica · 2010 · 8 claims · 8 setups

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GRN transcript haploinsufficiency, previously shown in blood-derived cells, does not hold in most brain regions of GRN mutation carriers

peripheral postmortem hek293 qrt-pcr microarray rt-pcr
Population study of 1311 C/T polymorphism of Glucose 6 Phosphate Dehydrogenase gene in Pakistan - an analysis of 715 X-chromosomes.

PMID 19640310 · PMC2725355 · BMC genetics · 2009 · 8 claims · 4 setups

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1311T is a frequent polymorphism in Pakistan both in subjects carrying G6PD Mediterranean mutation and in the general population

peripheral blood pcr gene brilliant
Toll-like receptor 1 polymorphisms affect innate immune responses and outcomes in sepsis.

PMID 18635889 · PMC2556453 · American journal of respiratory and critical care medicine · 2008 · 7 claims · 5 setups

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The TLR1 −7202A/G (rs5743551) G allele is associated with elevated TLR1-mediated cytokine production ex vivo

blood expressing intensive patients tlr-agonist nf-κb surface
Cell Specific eQTL Analysis without Sorting Cells.

PMID 25955312 · PMC4425538 · PLoS genetics · 2015 · 5 claims · 3 setups

Has reproduction · 90

A genome-environment interaction meta-analysis on whole blood can predict neutrophil- and lymphocyte-specific cis-eQTLs without sorting cells.

blood neutrophils blood neutrophil rna-seq
Design of a targeted blood transcriptional panel for monitoring immunological changes accompanying pregnancy.

PMID 38352867 · PMC10861739 · Frontiers in immunology · 2024 · 6 claims · 3 setups

Has reproduction · 73

A targeted panel of 176 transcripts plus 8 housekeeping genes was identified for monitoring immunological changes during pregnancy

blood bulk microarray bloodgen3
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
Increased risk of breast cancer among female relatives of patients with ataxia-telangiectasia: a causal relationship?

PMID 16222317 · PMC2361617 · British journal of cancer · 2005 · 6 claims · 3 setups

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Breast cancer risk is strongly and significantly elevated specifically among mothers of AT patients (SIR=7.14), consistent with Olsen et al's finding (SIR=6.7)

blood same retrospective atm weighted
CD14 C-159T and early infection with Pseudomonas aeruginosa in children with cystic fibrosis.

PMID 15975149 · PMC1168907 · Respiratory research · 2005 · 6 claims · 3 setups

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CD14 -159CC genotype is associated with increased risk of early P. aeruginosa infection in children with CF

peripheral plasma bal cd14 plasma bronchoalveolar
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 association between headache and Val158Met polymorphism in the catechol-O-methyltransferase gene: the HUNT Study.

PMID 16688411 · PMC3451703 · The journal of headache and pain · 2006 · 7 claims · 3 setups

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No association was found between COMT Val158Met polymorphism and migraine in a population-based sample.

peripheral population hunt genotyping structured extraction
Genetic association study and meta-analysis of the HTR2C Cys23Ser polymorphism and migraine.

PMID 17901921 · PMC3451673 · The journal of headache and pain · 2007 · 8 claims · 3 setups

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The HTR2C Cys23Ser polymorphism is not significantly associated with migraine or migraine with aura in the case-control study

blood-derived migraine pooled allelic case-control meta-analysis
Rare germline mutations in the BRCA2 gene are associated with early-onset prostate cancer.

PMID 17700570 · PMC2360390 · British journal of cancer · 2007 · 8 claims · 3 setups

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Germline protein-truncating BRCA2 mutations confer an elevated relative risk (~7.8-fold) of early-onset prostate cancer in Caucasian men

peripheral population-based same germline epidemiological genotype-phenotype
A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family.

PMID 19038017 · PMC2611973 · BMC medical genetics · 2008 · 6 claims · 3 setups

Full-text index only

A novel 4-base insertion mutation (1114insGAGT) in exon 2 of CDMP1 underlies Grebe-type chondrodysplasia in this Pakistani family

peripheral genomic microsatellite direct mutation

Experiments

Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.

Pathogenesis of vestibular schwannoma in ring chromosome 22.

Expanding CEP290 mutational spectrum in ciliopathies.

Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.

Swarm intelligence based wavelet coefficient feature selection for mass spectral classification: an application to proteomics data.

Replication by the Epistasis Project of the interaction between the genes for IL-6 and IL-10 in the risk of Alzheimer's disease.

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

Brain progranulin expression in GRN-associated frontotemporal lobar degeneration.

Population study of 1311 C/T polymorphism of Glucose 6 Phosphate Dehydrogenase gene in Pakistan - an analysis of 715 X-chromosomes.

Toll-like receptor 1 polymorphisms affect innate immune responses and outcomes in sepsis.

Cell Specific eQTL Analysis without Sorting Cells.

Design of a targeted blood transcriptional panel for monitoring immunological changes accompanying pregnancy.

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.

Increased risk of breast cancer among female relatives of patients with ataxia-telangiectasia: a causal relationship?

CD14 C-159T and early infection with Pseudomonas aeruginosa in children with cystic fibrosis.

Association of MUTYH and colorectal cancer.

The association between headache and Val158Met polymorphism in the catechol-O-methyltransferase gene: the HUNT Study.

Genetic association study and meta-analysis of the HTR2C Cys23Ser polymorphism and migraine.

Rare germline mutations in the BRCA2 gene are associated with early-onset prostate cancer.

A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family.