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 44

Assay: bidirectional ✕ Clear

Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.

PMID 19753312 · PMC2742639 · Molecular vision · 2009 · 7 claims · 4 setups

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Mutations responsible for over 30% of LCA cases in northern America were found in only 2.6% of LCA cases in a southern Indian cohort.

unrelated lca genomic allele-specific bidirectional electroretinogram
Beta-catenin nuclear labeling is a common feature of sessile serrated adenomas and correlates with early neoplastic progression after BRAF activation.

PMID 19745699 · PMC2788075 · The American journal of surgical pathology · 2009 · 8 claims · 3 setups

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Abnormal nuclear β-catenin labeling is common in SSAs but essentially absent in hyperplastic polyps (HPs)

colorectal microdissected archival immunohistochemistry pcr histopathologic
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.

PMID 15756302 · PMC2673054 · European journal of human genetics : EJHG · 2005 · 8 claims · 4 setups

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COMP mutations were identified in 78% of families referred with PSACH

genomic sequence subset pcr bidirectional sequence
Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.

PMID 18813951 · PMC4428656 · European journal of pediatrics · 2009 · 7 claims · 6 setups

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SLC26A4 mutations are the most prevalent cause of syndromic hereditary hearing loss (Pendred syndrome) in Iran

affected short pcr perchlorate
Molecular characterization of retinitis pigmentosa in Saudi Arabia.

PMID 19956407 · PMC2786884 · Molecular vision · 2009 · 8 claims · 7 setups

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The causative mutation was identified in 51 of 52 (94%/98%) Saudi RP patients, including seven novel mutations.

blood-derived families pcr-amplified ethnically genome-wide linkage bidirectional
Genomic variability associated with the presence of occult hepatitis B virus in HIV co-infected individuals.

PMID 19889143 · PMC3032083 · Journal of viral hepatitis · 2010 · 7 claims · 8 setups

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O-HBV-associated mutations in PreS/S/polymerase regions likely contribute to undetectable HBsAg by interfering with serologic detection, altering antigen secretion, and/or decreasing replicative fitness

serum hbv full-length o-hbv nested phylogenetic quasispecies
Atlas of nascent RNA transcripts reveals tissue-specific enhancer to gene linkages.

PMID 40281430 · PMC12032694 · BMC genomics · 2025 · 7 claims · 8 setups

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A large repository of nascent run-on RNA-seq samples (DBNascent) was assembled and uniformly processed to identify sites of bidirectional transcription genome-wide.

bidirectional across high-quality nascent comparative eqtl
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.

PMID 17133256 · PMC2670452 · European journal of human genetics : EJHG · 2007 · 7 claims · 3 setups

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Expert clinical-radiological preselection significantly increases mutation detection rate in MED

patients genomic single clinical pcr
Risk of pancreatic cancer in families with Lynch syndrome.

PMID 19861671 · PMC4091624 · JAMA · 2009 · 7 claims · 3 setups

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Families with germline MMR gene mutations (Lynch Syndrome) have an 8.6-fold increased risk of pancreatic cancer compared to the general U.S. population.

individuals extracted same modified germline proportional
Representing and querying disease networks using graph databases.

PMID 27462371 · PMC4960687 · BioData mining · 2016 · 7 claims · 8 setups

Has reproduction · 77

Graph databases are well suited for representing biological information because it is typically highly connected, semi-structured and unpredictable, unlike relational databases which require rigid schemas.

uniprot proteins tissues asthma all-vs-all protein-protein metabolic
Variation in the E2-binding domain of HPV 16 is associated with high-grade squamous intraepithelial lesions of the cervix.

PMID 11308254 · PMC2363853 · British journal of cancer · 2001 · 8 claims · 6 setups

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E2 gene disruption in the analysed regions is significantly more frequent in high-grade SILs than low-grade SILs

paraffin-embedded hpv16-positive representative cervical pcr restriction bidirectional
Frequent loss of the AXIN1 locus but absence of AXIN1 gene mutations in adenocarcinomas of the gastro-oesophageal junction with nuclear beta-catenin expression.

PMID 14970870 · PMC3215949 · British journal of cancer · 2004 · 8 claims · 7 setups

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Nuclear β-catenin expression in GEJ adenocarcinoma cell lines correlates with enhanced TCF-mediated reporter gene transcription

gej paired showing tumours tcf pcr-sscp bidirectional
The excess of 5' introns in eukaryotic genomes.

PMID 16314314 · PMC1292992 · Nucleic acids research · 2005 · 7 claims · 4 setups

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All 21 eukaryotic genomes studied show a statistically significant 5′-biased distribution of introns in protein-coding genes

eukaryotic same housekeeping comparative chi-square bidirectional
SeqDoC: rapid SNP and mutation detection by direct comparison of DNA sequence chromatograms.

PMID 15927052 · PMC1156871 · BMC bioinformatics · 2005 · 8 claims · 6 setups

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SeqDoC generates a subtracted difference trace between a reference and test chromatogram that highlights single base changes

melanocortin same paired test chromatogram tracediff weak
Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome.

PMID 15774015 · PMC1084245 · BMC genomics · 2005 · 6 claims · 4 setups

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Integrated phylogenetic foot printing and transcription factor binding site (TFBS) prediction identified a consensus putative STK11/LKB1 promoter region between nucleotides -1090 and -1472

genomic phylogenetic direct high
Detection of mutations in EGFR in circulating lung-cancer cells.

PMID 18596266 · PMC3551471 · The New England journal of medicine · 2008 · 8 claims · 7 setups

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The CTC-chip microfluidic device isolates CTCs from NSCLC patients in sufficient quantity and purity to permit EGFR mutational analysis

blood archived nsclc plasma microfluidic allele-specific standard
A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.

PMID 18587493 · PMC2435161 · Molecular vision · 2008 · 6 claims · 4 setups

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A heterozygous c.262C>A mutation in GJA8 (connexin 50), causing p.P88Q, is associated with a novel 'balloon-like' cataract phenotype with prominent Y-sutural opacities in an Indian family.

lens family genomic clinical family pcr
Transcriptomics and adaptive genomics of the asymptomatic bacteriuria Escherichia coli strain 83972.

PMID 18317809 · PMC2329726 · Molecular genetics and genomics : MGG · 2008 · 8 claims · 7 setups

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Strain 83972 is best described as a 'deconstructed pathogen' rather than a true commensal that acquired fitness properties

coli microarrays microarray comparative processing
Predicting enhancers in mammalian genomes using supervised hidden Markov models.

PMID 30917778 · PMC6437899 · BMC bioinformatics · 2019 · 8 claims · 8 setups

Has reproduction · 70

eHMM predicts enhancers with high precision and recall comparable to state-of-the-art methods and consistently outperforms them in accuracy and resolution

esc atac-seq chip-seq cage
Decoding and reconstructing disease relations between dry eye and depression: a multimodal investigation comprising meta-analysis, genetic pathways and Mendelian randomization.

PMID 38548265 · PMC11954816 · Journal of advanced research · 2025 · 8 claims · 8 setups

Has reproduction · 79

Meta-analysis confirmed a positive association between DED and DEP occurrence

patients taiwan biobank twb meta-analysis genome-wide score

Experiments

Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.

Beta-catenin nuclear labeling is a common feature of sessile serrated adenomas and correlates with early neoplastic progression after BRAF activation.

COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.

Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.

Molecular characterization of retinitis pigmentosa in Saudi Arabia.

Genomic variability associated with the presence of occult hepatitis B virus in HIV co-infected individuals.

Atlas of nascent RNA transcripts reveals tissue-specific enhancer to gene linkages.

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.

Risk of pancreatic cancer in families with Lynch syndrome.

Representing and querying disease networks using graph databases.

Variation in the E2-binding domain of HPV 16 is associated with high-grade squamous intraepithelial lesions of the cervix.

Frequent loss of the AXIN1 locus but absence of AXIN1 gene mutations in adenocarcinomas of the gastro-oesophageal junction with nuclear beta-catenin expression.

The excess of 5' introns in eukaryotic genomes.

SeqDoC: rapid SNP and mutation detection by direct comparison of DNA sequence chromatograms.

Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome.

Detection of mutations in EGFR in circulating lung-cancer cells.

A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.

Transcriptomics and adaptive genomics of the asymptomatic bacteriuria Escherichia coli strain 83972.

Predicting enhancers in mammalian genomes using supervised hidden Markov models.

Decoding and reconstructing disease relations between dry eye and depression: a multimodal investigation comprising meta-analysis, genetic pathways and Mendelian randomization.