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 60

System / cell line: blood ✕ Assay: plus ✕ 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
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
ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase.

PMID 14617382 · PMC305365 · BMC genetics · 2003 · 8 claims · 7 setups

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A novel O1v-A2 hybrid allele, containing four missense mutations, causes the A weak B phenotype in five individuals of African descent

genomic red computational abo sequencing blood
Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction.

PMID 19917957 · PMC2935681 · Archives of dermatology · 2009 · 8 claims · 4 setups

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The clinical distinction between FC, BSS, and MFT has little prognostic or clinical utility, even within the same family, warranting a unifying diagnosis of 'CYLD cutaneous syndrome'.

blood-derived individuals patients excised genomic structured tumor
Human methylome variation across Infinium 450K data on the Gene Expression Omnibus.

PMID 33937763 · PMC8061458 · NAR genomics and bioinformatics · 2021 · 8 claims · 6 setups

Has reproduction · 88

Approximately two-thirds of compiled HM450K samples are from blood, one-quarter from brain, and roughly one-third from cancer patients.

hm450k seven annotated illumina beadarray model-based
Transcriptional firing represses bactericidal activity in cystic fibrosis airway neutrophils.

PMID 33948572 · PMC8080108 · Cell reports. Medicine · 2021 · 8 claims · 8 setups

Has reproduction · 35

Neutrophils recruited to CF airways undergo rapid, broad transcriptional firing that upregulates anabolic genes and downregulates antimicrobial genes

blood healthy transmigrated cfasn-transmigrated flow transmigration content
MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.

PMID 18154640 · PMC2233610 · BMC medical genetics · 2007 · 8 claims · 6 setups

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Chromosome 8p23.1 has previously been proposed as a nuclear modifier locus for A1555G-associated hearing loss phenotype

blood a1555g lymphoblastoid nuclear pcr-rflp direct rt-pcr
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
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
Intergenic risk variant rs56258221 skews the fate of naive CD4(+) T cells via miR4464-BACH2 interplay in primary sclerosing cholangitis.

PMID 38901430 · PMC11293351 · Cell reports. Medicine · 2024 · 8 claims · 8 setups

Has reproduction · 58

rs56258221 (BACH2/MIR4464) associates with a distinct peripheral blood T cell immunophenotype in people with PSC

peripheral liver facs-sorted cd4+ flow bulk cite-seq
A four-gene signature from blood to exclude bacterial etiology of lower respiratory tract infection in adults.

PMID 41285807 · PMC12644739 · Nature communications · 2025 · 8 claims · 8 setups

Has reproduction · 94

A 4-gene whole-blood signature (ITGB4, ITGA7, IFI27, FAM20A) discriminates any bacterial from nonbacterial ARI with cross-validated AUC = 0.90

hospitalized ari febrile infection bulk rna-seq microarray
Two previously proposed P1/P2-differentiating and nine novel polymorphisms at the A4GALT (Pk) locus do not correlate with the presence of the P1 blood group antigen.

PMID 16212661 · PMC1282566 · BMC genetics · 2005 · 8 claims · 4 setups

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The previously proposed P2-specific markers -551_-550insC and -160A>G do not correlate with P1/P2 phenotype, since they occur homozygously in many P1 individuals too

genomic erythrocytes direct pcr pcr-asp
Multiplex amplification enabled by selective circularization of large sets of genomic DNA fragments.

PMID 15860768 · PMC1087789 · Nucleic acids research · 2005 · 8 claims · 4 setups

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Selector oligonucleotides can circularize many distinct genomic restriction fragments in one reaction, enabling parallel amplification with a single universal primer pair instead of multiple target-specific primer pairs

genomic 7776-clone selector-based cdna restriction
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.

PMID 17437275 · PMC2696796 · Human mutation · 2007 · 7 claims · 5 setups

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Four novel pathogenic ZEB1 mutations (two deletions, one nonsense, one duplication, all in exon 7) were identified in four of ten unrelated Czech/British PPCD families

peripheral genomic six individuals sequencing pcr microsatellite
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
Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.

PMID 18828908 · PMC2567295 · BMC medical genetics · 2008 · 8 claims · 6 setups

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c.1333delC is a novel de novo frameshift mutation in TBX5 exon 9 predicted to produce an elongated 580-amino-acid protein (74 miscoding + 62 supernumerary C-terminal residues) instead of a truncated one

peripheral cos-7 direct confocal co-localization
ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.

PMID 18465152 · PMC2441586 · Neurogenetics · 2008 · 8 claims · 8 setups

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37% (16/43) of Dutch index patients with early-onset recessive cerebellar ataxia carry SACS mutations, indicating ARSACS is far more frequent than previously estimated

genomic identified sacs-mutation-positive alleles pcr clinical brain
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
Detection of large deletions in the LDL receptor gene with quantitative PCR methods.

PMID 15842735 · PMC1087844 · BMC medical genetics · 2005 · 7 claims · 3 setups

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MLPA was cheaper, more accurate and more precise than Real-Time PCR for detecting LDL receptor gene deletions

genomic real-time multiplex long-range
CpG island methylation status and mutation analysis of the RB1 gene essential promoter region and protein-binding pocket domain in nervous system tumours.

PMID 12556968 · PMC2376780 · British journal of cancer · 2003 · 8 claims · 4 setups

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RB1 CpG island hypermethylation is a common epigenetic event associated with development of malignant nervous system tumours

nervous bisulphite-modified same pcr-sscp methylation-specific bisulphite

Experiments

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

PALB2 variants in hereditary and unselected Finnish prostate cancer cases.

ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase.

Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction.

Human methylome variation across Infinium 450K data on the Gene Expression Omnibus.

Transcriptional firing represses bactericidal activity in cystic fibrosis airway neutrophils.

MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.

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

Association of MUTYH and colorectal cancer.

Intergenic risk variant rs56258221 skews the fate of naive CD4(+) T cells via miR4464-BACH2 interplay in primary sclerosing cholangitis.

A four-gene signature from blood to exclude bacterial etiology of lower respiratory tract infection in adults.

Two previously proposed P1/P2-differentiating and nine novel polymorphisms at the A4GALT (Pk) locus do not correlate with the presence of the P1 blood group antigen.

Multiplex amplification enabled by selective circularization of large sets of genomic DNA fragments.

Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.

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

Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.

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.

Detection of large deletions in the LDL receptor gene with quantitative PCR methods.

CpG island methylation status and mutation analysis of the RB1 gene essential promoter region and protein-binding pocket domain in nervous system tumours.