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 481

System / cell line: coding ✕ Clear

A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome.

PMID 19052653 · PMC2592999 · Molecular vision · 2008 · 7 claims · 4 setups

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PITX2 is considered the major causative gene for full-spectrum Axenfeld-Rieger syndrome.

genomic healthy peripheral affected pcr genomic full
Exhaustive prediction of disease susceptibility to coding base changes in the human genome.

PMID 18793467 · PMC2537574 · BMC bioinformatics · 2008 · 8 claims · 7 setups

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Inter-species conservation is the strongest single predictor of disease-associated coding mutations among the factors tested.

hgmd refseq aligned svm svm reciprocal inter-species
Natural selection of protein structural and functional properties: a single nucleotide polymorphism perspective.

PMID 18397526 · PMC2643940 · Genome biology · 2008 · 8 claims · 8 setups

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The SNP A/S ratio is a robust measure of selective constraint, correlating with interspecies Ka/Ks ratios and with protein sequence conservation.

sequence genes proteins sequences snp interspecies sequence
Mutation analysis of the MDM4 gene in German breast cancer patients.

PMID 18279506 · PMC2259322 · BMC cancer · 2008 · 8 claims · 8 setups

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Resequencing of the whole MDM4 coding region in 40 German familial breast cancer patients uncovered two coding variants (V74V and D153G) in 4/40 patients

german bilateral mdm4 lymphoid direct rflp-based splice
Next-generation sequencing.

PMID 20030863 · PMC2797692 · Breast cancer research : BCR · 2009 · 8 claims · 7 setups

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Massively parallel sequencing can simultaneously capture base-pair mutations, copy number aberrations and somatic rearrangements of a cancer genome in a single experiment

individuals metastatic acute oestrogen whole-exome whole-genome large-scale
Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients.

PMID 20017903 · PMC2803168 · BMC medical genetics · 2009 · 6 claims · 5 setups

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Only three nucleotide variations in ITGB1BP2 were found among 928 screened subjects, indicating a high degree of conservation of the gene in the populations analyzed

genomic hela itgb1bp2 melusin direct minigene in-silico
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
Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.

PMID 19949657 · PMC2775849 · Journal of Korean medical science · 2009 · 7 claims · 8 setups

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Sequencing of CLCN1 in 10 unrelated Korean MC patients identified nine different point mutations, six of which are novel (p.M128I, p.S189C, p.M373L, p.P480S, p.G523D, p.M609K).

genomic frozen skeletal korean direct rt-pcr-based pcr-restriction
Phenotypic categorization of genetic skin diseases reveals new relations between phenotypes, genes and pathways.

PMID 19744994 · PMC2773259 · Bioinformatics (Oxford, England) · 2009 · 8 claims · 5 setups

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560 genetic skin diseases can be decomposed into 71 elementary phenotypic features (42 dermatologic, 29 systemic) that combine to represent each disease as a point in a multidimensional phenotype space

genodermatoses phenotype disease gene-phenotype manual correlation principal
Nucleosome deposition and DNA methylation at coding region boundaries.

PMID 19723310 · PMC2768978 · Genome biology · 2009 · 8 claims · 8 setups

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Nucleosomes and DNA methylation form distinct peaks just downstream of the start codon and just upstream of the stop codon, marking both ends of protein coding units genome-wide.

yeast drosophila resting naive nucleosome methylation pol
Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.

PMID 17088437 · PMC2705832 · Molecular cancer therapeutics · 2006 · 8 claims · 3 setups

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137 oncogenic mutations were identified across 14 of 24 screened cancer genes (APC, BRAF, CDKN2A, CTNNB1, HRAS, KRAS, NRAS, SMAD4, PIK3CA, PTEN, RB1, STK11, TP53, VHL) in the NCI-60 panel

nci-60 pcr multiplex snp
Mutation patterns of mtDNA: empirical inferences for the coding region.

PMID 18518963 · PMC2438339 · BMC evolutionary biology · 2008 · 5 claims · 3 setups

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Heteroplasmy was detected in 6.5% (3/46) of Azorean families analyzed, all caused by new point mutations with no insertions/deletions.

extended-family same direct electropherogram molecular
Compressing DNA sequence databases with coil.

PMID 18489794 · PMC2426707 · BMC bioinformatics · 2008 · 8 claims · 1 setups

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coil achieves higher compression ratio than state-of-the-art general-purpose compression tools on a large GenBank EST database file

large sequence
Identification of a novel mutation of CFTR gene in a Korean patient with cystic fibrosis.

PMID 18955805 · PMC2580002 · Journal of Korean medical science · 2008 · 8 claims · 1 setups

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The patient is a compound heterozygote for CFTR mutations c.263T>G (p.Leu88X) in exon 3 and c.2089-2090insA (p.Arg697LysfsX33) in exon 13

peripheral direct
mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences.

PMID 16381973 · PMC1347373 · Nucleic acids research · 2006 · 8 claims · 3 setups

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mtDB is a comprehensive, actively maintained database of published human mitochondrial genome sequences, providing a common resource for population genetics and medical research

mitochondrial aligned compilation sequence multi-locus
Rfam 15: RNA families database in 2025.

PMID 39526405 · PMC11701678 · Nucleic acids research · 2025 · 8 claims · 6 setups

Has reproduction · 68

Rfamseq was expanded to 26 106 genomes, a 76% increase, by incorporating the latest UniProt reference proteomes and additional viral genomes

rfamseq rfam hepatitis mirbase covariance structure covariation
Systematic and computational identification of Androctonus crassicauda long non-coding RNAs.

PMID 33633149 · PMC7907363 · Scientific reports · 2021 · 7 claims · 7 setups

Has reproduction · 71

A custom ECF pipeline identified 13,401 lncRNAs in the A. crassicauda transcriptome (12,642 novel, 759 known).

androctonus crassicauda paired-end coding homology
GC-biased gene conversion conceals the prediction of the nearly neutral theory in avian genomes.

PMID 30616647 · PMC6322265 · Genome biology · 2019 · 8 claims · 6 setups

Has reproduction · 96

gBGC conceals the correlation between life-history traits and dN/dS in birds; accounting for it reveals correlations consistent with nearly neutral theory

avian comparative correlation robustness
Genetic diversity and distribution of Peromyscus-borne hantaviruses in North America.

PMID 10081674 · PMC2627704 · Emerging infectious diseases · 1999 · 8 claims · 5 setups

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SNV-like hantaviruses are widely distributed in Peromyscus species rodents throughout North America

hantavirus-infected aligned phylogenetic archival rt-pcr maximum bootstrap
Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence.

PMID 15588320 · PMC544879 · BMC genomics · 2004 · 8 claims · 8 setups

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The hg16 automatic assembly of the 8p23.1 DEF locus contains misassemblies caused by segmental duplications and interindividual/intraindividual genetic variation

bac genome metaphase overlapping manual repeat fluorescence

Experiments

A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome.

Exhaustive prediction of disease susceptibility to coding base changes in the human genome.

Natural selection of protein structural and functional properties: a single nucleotide polymorphism perspective.

Mutation analysis of the MDM4 gene in German breast cancer patients.

Next-generation sequencing.

Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients.

PALB2 variants in hereditary and unselected Finnish prostate cancer cases.

Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.

Phenotypic categorization of genetic skin diseases reveals new relations between phenotypes, genes and pathways.

Nucleosome deposition and DNA methylation at coding region boundaries.

Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.

Mutation patterns of mtDNA: empirical inferences for the coding region.

Compressing DNA sequence databases with coil.

Identification of a novel mutation of CFTR gene in a Korean patient with cystic fibrosis.

mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences.

Rfam 15: RNA families database in 2025.

Systematic and computational identification of Androctonus crassicauda long non-coding RNAs.

GC-biased gene conversion conceals the prediction of the nearly neutral theory in avian genomes.

Genetic diversity and distribution of Peromyscus-borne hantaviruses in North America.

Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence.