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 586

System / cell line: allele ✕ Clear

Unbalanced chromatin binding of Polycomb complexes drives neurodevelopmental disorders.

PMID 41653922 · PMC13034722 · Molecular cell · 2026 · 8 claims · 8 setups

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Heterozygous de novo missense mutations in RING1 and RNF2 are found in individuals with neurodevelopmental/intellectual disability phenotypes

cohorts prc1 ring1a elegans variant structural western
Blood-based epigenetic instability linked to human aging and disease.

PMID 41690920 · PMC13018287 · Nature communications · 2026 · 7 claims · 8 setups

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31,744 unmethylated (and 6143 methylated) CpG loci in blood show highly consistent, stable methylation in young healthy individuals and are defined as Epigenetically Stable Loci (ESLs)

blood normal paired aml illumina whole-genome methylation
Reconstruction of the lifeways of Central European Late Bronze Age communities using ancient DNA, isotope and osteoarchaeological analyses.

PMID 41735297 · PMC12932679 · Nature communications · 2026 · 7 claims · 8 setups

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Late Bronze Age individuals from Central Germany (Kuckenburg/Esperstedt) show genetic continuity with the preceding Early Bronze Age Únětice population.

skeletal ancient newly shotgun principal admixture
Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium leading to nanophthalmos.

PMID 41746734 · PMC13043084 · JCI insight · 2026 · 8 claims · 8 setups

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The dG-MYRF C-terminal frameshift variant undergoes normal homotrimerization, cleavage, and nuclear localization but shows reduced steady-state levels of the C-terminal cleavage product and decreased transcriptional activation of target genes.

arpe-19 myrf rpe e17.5 immunofluorescence computational cycloheximide
Prediction and assessment of splicing alterations: implications for clinical testing.

PMID 18951448 · PMC2832470 · Human mutation · 2008 · 8 claims · 5 setups

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Bioinformatic prediction alone is insufficient; in vitro analysis is needed to confirm or establish splicing aberrations for clinical variant classification

brca1 lymphocytes mammalian large bioinformatic cycloheximide mini-gene
SNP haplotype tagging from DNA pools of two individuals.

PMID 12709267 · PMC156884 · BMC bioinformatics · 2003 · 8 claims · 3 setups

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An algorithm can reconstruct haplotypes from pools of two individuals' DNA under very general conditions, without requiring Hardy-Weinberg equilibrium.

add2 pooling computational exhaustive
DNA methylation profiling of the human major histocompatibility complex: a pilot study for the human epigenome project.

PMID 15550986 · PMC529316 · PLoS biology · 2004 · 8 claims · 3 setups

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The human MHC methylation profile is strongly bimodal, with the vast majority of analysed regions being either hypo- (≤30%) or hypermethylated (≥70%)

mhc subset heterogeneously bisulphite maldi-ms sub-cloning
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
Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q-linked periodic catatonia.

PMID 16225677 · PMC1274336 · BMC psychiatry · 2005 · 8 claims · 3 setups

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Systematic mutation screening of KIAA0767 and KIAA1646 was performed in chromosome 22q-linked periodic catatonia pedigrees

genomic unrelated systematic case-control
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
TassDB: a database of alternative tandem splice sites.

PMID 17142241 · PMC1669710 · Nucleic acids research · 2007 · 7 claims · 3 setups

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TassDB is a relational database storing GYNGYN donor and NAGNAG acceptor tandem splice sites across eight species

homo computational nagnag est maximum snp
SiDCoN: a tool to aid scoring of DNA copy number changes in SNP chip data.

PMID 17971856 · PMC2034603 · PloS one · 2007 · 8 claims · 3 setups

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SiDCoN is a spreadsheet-based application that simulates Ballele and logR plots for all known types of DNA copy number change, with or without stromal contamination, for up to 5000 SNP data points and up to 3 combined aberrations

sidcon real mixtures snp re-analysis
Nicotinamide N-methyl transferase (NNMT) gene polymorphisms and risk for spina bifida.

PMID 18553462 · PMC2630518 · Birth defects research. Part A, Clinical and molecular teratology · 2008 · 7 claims · 3 setups

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NNMT was identified in a genome-wide linkage scan (Souto et al., 2005) as an important regulator of plasma homocysteine concentration in a Spanish population.

infants infant same snp case-control haplotype
EpiToolKit--a web server for computational immunomics.

PMID 18440979 · PMC2447732 · Nucleic acids research · 2008 · 7 claims · 3 setups

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EpiToolKit is a web server integrating five MHC class I and two MHC class II epitope prediction methods in a unified, user-friendly interface.

randomly novel minor mhc polymorphic
A novel optineurin genetic mutation associated with open-angle glaucoma in a Chinese family.

PMID 19710941 · PMC2730747 · Molecular vision · 2009 · 8 claims · 3 setups

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A novel missense mutation A1274G (Lys322Glu) in exon 10 of OPTN was identified in affected members of the family

family peripheral patients microsatellite pcr clinical
A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.

PMID 11506491 · PMC2364106 · British journal of cancer · 2001 · 8 claims · 2 setups

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All seven North American melanoma-prone families carrying V126D share a haplotype consistent with a single common founder/ancestor for the mutation

melanoma-prone haplotype microsatellite maximum
The rate of the 6174delT founder Jewish mutation in BRCA2 in patients with non-colonic gastrointestinal tract tumours in Israel.

PMID 11207041 · PMC2363777 · British journal of cancer · 2001 · 8 claims · 2 setups

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The 6174delT BRCA2 mutation carrier rate is significantly higher in Jewish Ashkenazi non-colonic GI cancer patients (8.6%) than in the general Ashkenazi population (1.16%)

unselected peripheral extraction pcr
VarDetect: a nucleotide sequence variation exploratory tool.

PMID 19091032 · PMC2638149 · BMC bioinformatics · 2008 · 8 claims · 2 setups

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VarDetect is a stand-alone software tool that automatically detects nucleotide variation (SNPs) from fluorescence-based chromatogram traces using pre-calculated peak content ratios and artifact-handling rules.

genomic vardetect automatic software
ADZE: a rarefaction approach for counting alleles private to combinations of populations.

PMID 18779233 · PMC2732282 · Bioinformatics (Oxford, England) · 2008 · 6 claims · 2 setups

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A generalized rarefaction-based statistic can estimate the sample size-corrected number of distinct alleles private to any combination of populations, generalizing Kalinowski's (2004) private allelic richness to groups of populations.

populations simulated microsatellite computational
Genes influencing coagulation and the risk of aneurysmal subarachnoid hemorrhage, and subsequent complications of secondary cerebral ischemia and rebleeding.

PMID 19826759 · PMC2815293 · Acta neurochirurgica · 2010 · 6 claims · 2 setups

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Carriers of the factor XIII subunit B His95Arg polymorphism have an increased risk of aneurysmal SAH

dutch aneurysmal pcr-based clinical

Experiments

Unbalanced chromatin binding of Polycomb complexes drives neurodevelopmental disorders.

Blood-based epigenetic instability linked to human aging and disease.

Reconstruction of the lifeways of Central European Late Bronze Age communities using ancient DNA, isotope and osteoarchaeological analyses.

Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium leading to nanophthalmos.

Prediction and assessment of splicing alterations: implications for clinical testing.

SNP haplotype tagging from DNA pools of two individuals.

DNA methylation profiling of the human major histocompatibility complex: a pilot study for the human epigenome project.

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.

Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q-linked periodic catatonia.

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

TassDB: a database of alternative tandem splice sites.

SiDCoN: a tool to aid scoring of DNA copy number changes in SNP chip data.

Nicotinamide N-methyl transferase (NNMT) gene polymorphisms and risk for spina bifida.

EpiToolKit--a web server for computational immunomics.

A novel optineurin genetic mutation associated with open-angle glaucoma in a Chinese family.

A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.

The rate of the 6174delT founder Jewish mutation in BRCA2 in patients with non-colonic gastrointestinal tract tumours in Israel.

VarDetect: a nucleotide sequence variation exploratory tool.

ADZE: a rarefaction approach for counting alleles private to combinations of populations.

Genes influencing coagulation and the risk of aneurysmal subarachnoid hemorrhage, and subsequent complications of secondary cerebral ischemia and rebleeding.