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 184

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

Allele-specific immune gene quantification and expression analysis in single-cell RNA-seq data.

PMID 41229397 · PMC12604667 · NAR genomics and bioinformatics · 2025 · 8 claims · 4 setups

Has reproduction · 75

scIGD is a Snakemake workflow that automates HLA allele-typing and allele-specific expression quantification from scRNA-seq data

aida merkel-cell 20k myeloma scrna-seq
Non-imprinted allele-specific DNA methylation on human autosomes.

PMID 19958531 · PMC2812945 · Genome biology · 2009 · 8 claims · 7 setups

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SNPs within CpG islands are associated with allele-specific DNA methylation differences between alleles.

leukocytes leukocyte hek293 bisulfite methylation-sensitive cdna
Matrix-assisted laser desorption/ionisation, time-of-flight mass spectrometry in genomics research.

PMID 16895448 · PMC1523240 · PLoS genetics · 2006 · 8 claims · 8 setups

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MALDI-TOF MS-based primer extension assays (hME, iPLEX) enable cost-effective, high-throughput multiplexed SNP genotyping

genomic domestic pooled colorectal snp pooling microsatellite
Cis sequence effects on gene expression.

PMID 17727713 · PMC2077339 · BMC genomics · 2007 · 6 claims · 4 setups

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Approximately one in four genes (8 of 30, 26.7%) exhibit statistically significant cis sequence effects on gene expression in this study, consistent with a literature-wide weighted average of 26.2%

lymphoblastoid genomic oligonucleotide gene candidate snp
Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia.

PMID 19818657 · PMC2818284 · Blood cells, molecules & diseases · 2010 · 8 claims · 5 setups

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Common TMPRSS6 polymorphisms (K253E, V736A) are not risk factors for iron deficiency anemia in the general population

white iron-refractory pcr hepg2 complete direct allele-specific
The genetics of regulatory variation in the human genome.

PMID 16004727 · PMC3525257 · Human genomics · 2005 · 8 claims · 7 setups

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Naturally-occurring gene expression variation among individuals is common across species (yeast, Drosophila, mouse, fish, maize, primates, humans) and has a significant genetic component.

ceph immortalised lymphoblastoid individuals reporter allelic microarray
Relation of candidate genes that encode for endothelial function to migraine and stroke: the Stroke Prevention in Young Women study.

PMID 19661472 · PMC2753702 · Stroke · 2009 · 8 claims · 6 setups

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EDN SNP rs1800542 is associated with increased ischemic stroke risk in Caucasian women

international spyw candidate haplotype population
The origins of lactase persistence in Europe.

PMID 19714206 · PMC2722739 · PLoS computational biology · 2009 · 8 claims · 5 setups

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The −13,910*T allele first underwent selection among dairying farmers around 7,500 years ago in a region between the central Balkans and central Europe, possibly linked to the Linearbandkeramik culture.

simulated simulation 910*t farming demic approximate comparison
A SNP-centric database for the investigation of the human genome.

PMID 15046636 · PMC395999 · BMC bioinformatics · 2004 · 8 claims · 3 setups

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SNPper is a web-based, integrated SNP database combining dbSNP, the Human Genome sequence (Goldenpath), LocusLink, GeneOntology, and SWISS-PROT data with querying, visualization, and export tools.

genome genes user-supplied database snp-gene user-submitted
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
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
HaploSNPer: a web-based allele and SNP detection tool.

PMID 18307806 · PMC2288614 · BMC genetics · 2008 · 6 claims · 2 setups

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HaploSNPer is a web-based tool integrating BLASTN, CAP3/PHRAP, and QualitySNP into a single pipeline for allele and SNP detection from diploid and polyploid species

sncg wheat est
Dynamic reversal of random X-Chromosome inactivation during iPSC reprogramming.

PMID 31515287 · PMC6771397 · Genome research · 2019 · 7 claims · 6 setups

Has reproduction · 75

XCR during iPSC reprogramming is hierarchical, with distinct subsets of X-linked genes reactivating early, intermediate, late, and very late

mus mefs bulk independent allele-specific fluorescence-activated live
Genome-wide survey of allele-specific splicing in humans.

PMID 18518984 · PMC2427040 · BMC genomics · 2008 · 8 claims · 5 setups

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A genome-wide computational scan identified 30,977 SNPs located within predicted splicing regulatory sequences (donor sites, acceptor sites, branch points, and ESEs)

genome cdna hapmap computational est exon
DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity.

PMID 18254956 · PMC2270804 · BMC medical genetics · 2008 · 8 claims · 5 setups

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Three LOXL1 SNPs previously associated with pseudoexfoliation in Nordic populations are significantly associated with pseudoexfoliation syndrome and pseudoexfoliation glaucoma in a U.S. ethnically diverse population

patients randomly cohort pxf taqman direct full-gene
Sequence diversity within the HA-1 gene as detected by melting temperature assay without oligonucleotide probes.

PMID 16202172 · PMC1260020 · BMC medical genetics · 2005 · 8 claims · 3 setups

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HA-1 allele and genotype frequencies were determined in 131 unrelated Italian subjects (HA-1H=0.43, HA-1R=0.57), consistent with Hardy-Weinberg equilibrium and prior North American Caucasian data.

genomic sequence-specific direct melting
Population history and natural selection shape patterns of genetic variation in 132 genes.

PMID 15361935 · PMC515367 · PLoS biology · 2004 · 7 claims · 5 setups

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Developed a rigorous computational approach that corrects for multiple hypothesis testing and models population demographic history to test for natural selection

genomic empirical snps chromosome comprehensive coalescent fst
Genetic polymorphisms in monoamine neurotransmitter systems show only weak association with acute post-surgical pain in humans.

PMID 16848906 · PMC1543620 · Molecular pain · 2006 · 8 claims · 5 setups

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COMT SNP5 (rs740603, intron 1) shows significant association with maximum post-operative pain rating

surgical candidate haplotype allele
Variants in the estrogen receptor alpha gene and its mRNA contribute to risk for schizophrenia.

PMID 18424448 · PMC2465798 · Human molecular genetics · 2008 · 8 claims · 8 setups

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Genotype CC (rs2234693/PvuII) and C-allele-containing haplotypes in ESR1 intron 1 are more frequent in African American schizophrenics than controls

genomic postmortem nimhgi esr1 targeted case-control family-based
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

Experiments

Allele-specific immune gene quantification and expression analysis in single-cell RNA-seq data.

Non-imprinted allele-specific DNA methylation on human autosomes.

Matrix-assisted laser desorption/ionisation, time-of-flight mass spectrometry in genomics research.

Cis sequence effects on gene expression.

Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia.

The genetics of regulatory variation in the human genome.

Relation of candidate genes that encode for endothelial function to migraine and stroke: the Stroke Prevention in Young Women study.

The origins of lactase persistence in Europe.

A SNP-centric database for the investigation of the human genome.

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

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

HaploSNPer: a web-based allele and SNP detection tool.

Dynamic reversal of random X-Chromosome inactivation during iPSC reprogramming.

Genome-wide survey of allele-specific splicing in humans.

DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity.

Sequence diversity within the HA-1 gene as detected by melting temperature assay without oligonucleotide probes.

Population history and natural selection shape patterns of genetic variation in 132 genes.

Genetic polymorphisms in monoamine neurotransmitter systems show only weak association with acute post-surgical pain in humans.

Variants in the estrogen receptor alpha gene and its mRNA contribute to risk for schizophrenia.

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