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 51

System / cell line: families ✕ Assay: test ✕ Clear

Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2.

PMID 10188893 · PMC2362698 · British journal of cancer · 1999 · 7 claims · 7 setups

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Presence of at least one ovarian cancer case in a small family strongly predicts finding a BRCA1 or BRCA2 mutation.

genomic pcr family truncation pcr multiplex
Molecular analysis of the BRCA1 and BRCA2 genes in 32 breast and/or ovarian cancer Spanish families.

PMID 10755399 · PMC2374482 · British journal of cancer · 2000 · 8 claims · 3 setups

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Only 25% (8/32) of the Spanish breast/ovarian cancer families carried a BRCA1 or BRCA2 mutation

genomic truncation single-strand direct
High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area.

PMID 16168118 · PMC1242140 · Breast cancer research : BCR · 2005 · 8 claims · 4 setups

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BRCA1 c.5266dupC (5382insC) is the dominant recurrent mutation driving hereditary breast/ovarian cancer in this Czech population

genomic pcr-amplified cdna truncation direct rt-pcr
Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families.

PMID 18783588 · PMC2547096 · BMC medical genetics · 2008 · 8 claims · 5 setups

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Five recurrent mutations (1806C>T, 300T>G, 300T>A, 5382insC in BRCA1; IVS16-2A>G in BRCA2) are responsible for the majority of BRCA1/2-positive Slovenian families

leucocyte slovenian truncation denaturing multiplex
Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.

PMID 18433509 · PMC2386495 · BMC medicine · 2008 · 8 claims · 8 setups

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A combination of mutation-screening techniques (PTT, SSCP/HD, D-HPLC, sequencing, MLPA, mosaicism analysis, expression analysis) achieved a 100% mutation detection frequency in classical FAP

peripheral genomic cdna truncation sscp d-hplc
Clustering by neurocognition for fine mapping of the schizophrenia susceptibility loci on chromosome 6p.

PMID 19694819 · PMC4286260 · Genes, brain, and behavior · 2009 · 6 claims · 6 setups

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A family-based clustering strategy using neurocognitive test scores (CPT, WCST) can identify more homogeneous subgroups of schizophrenia families for genetic association analysis

multiplex affected subjects cluster-specific family-based continuous wisconsin
Pseudofam: the pseudogene families database.

PMID 18957444 · PMC2686518 · Nucleic acids research · 2009 · 8 claims · 7 setups

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Pseudofam is an online database of pseudogene families built by mapping pseudogenes to Pfam protein families, providing query tools, statistics, and sequence alignments

eukaryotic over pseudogenes pseudogene blast family sequence
Insights into the coupling of duplication events and macroevolution from an age profile of animal transmembrane gene families.

PMID 16895434 · PMC1534073 · PLoS computational biology · 2006 · 8 claims · 7 setups

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The density of transmembrane gene duplicates positively correlates with the estimated maximum number of cell types of common ancestors

transmembrane simulated age duplicate maximum kernel monte
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
A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series.

PMID 18234697 · PMC2577762 · Brain : a journal of neurology · 2008 · 8 claims · 7 setups

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Five different pathogenic GRN mutations (frameshift/premature termination) were identified in 25 affected members of a large UK FTLD cohort, with no whole-gene deletions detected

ftld grn genomic post-mortem clinical volumetric direct
Comprehensive benchmarking of large language models for RNA secondary structure prediction.

PMID 40205851 · PMC11982019 · Briefings in bioinformatics · 2025 · 7 claims · 4 setups

Has reproduction · 88

Existing RNA-LLMs had not previously been evaluated for secondary structure prediction in a unified, fair experimental setup with the same datasets and prediction model.

archiveii bprna large-scale secondary cross-family self-supervised
Testing groups of genomic locations for enrichment in disease loci using linkage scan data: a method for hypothesis testing.

PMID 16848972 · PMC3525155 · Human genomics · 2006 · 8 claims · 2 setups

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A method testing enrichment of a group of genomic locations for disease loci by comparing the average NPL score of the group to a null distribution from randomly drawn groups of equal size

simulated pedigrees simulated real
Polymorphism at the C-reactive protein locus influences gene expression and predisposes to systemic lupus erythematosus.

PMID 14645206 · PMC3707088 · Human molecular genetics · 2004 · 8 claims · 5 setups

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The minor (rare) allele of CRP SNP 'CRP 4' is associated/linked with development of SLE in family-based transmission studies.

crp simplex same serum direct family-based linkage
Molecular epidemiology of DFNB1 deafness in France.

PMID 15070423 · PMC385234 · BMC medical genetics · 2004 · 8 claims · 7 setups

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35delG remains the most common pathogenic GJB2 mutation in the studied French (Languedoc Roussillon) population despite being less frequent than in other Mediterranean populations

gjb2 dried genomic deaf dhplc pcr-mediated pcr-dhplc
Long-term trends in evolution of indels in protein sequences.

PMID 17298668 · PMC1805498 · BMC evolutionary biology · 2007 · 8 claims · 5 setups

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More than one third of protein domains show a statistically significant tendency to increase or decrease in size over evolutionary distance.

curated individual cdd linear pearson binomial
GPCR genes are preferentially retained after whole genome duplication.

PMID 18382678 · PMC2270905 · PloS one · 2008 · 8 claims · 6 setups

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WGD-derived nGPCR duplicates in Tetraodon nigroviridis are retained at a significantly higher rate (23.5%) than the genome-wide average (15%)

vertebrate ngpcr nigroviridis syntenic phylogenetic chromosomal
Examination of tetrahydrobiopterin pathway genes in autism.

PMID 19674121 · PMC2784255 · Genes, brain, and behavior · 2009 · 8 claims · 6 setups

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PTS (6-pyruvoyl-tetrahydropterin synthase) shows significant nominal association with autism (p=0.009), not restricted to affected-male-only subset

non-hispanic subset trios case snp two-point pedigree
Evaluation of models to predict BRCA germline mutations.

PMID 17016486 · PMC2360540 · British journal of cancer · 2006 · 7 claims · 7 setups

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Four commonly used BRCA risk prediction models (BRCAPRO, Manchester, Penn, Myriad-Frank) have only modest ability to rule in or rule out BRCA1/2 germline mutation carrier status at a 10% probability threshold.

proband pedigrees randomly brca1 brcapro manchester
BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

PMID 18234728 · PMC2564862 · Journal of medical genetics · 2008 · 8 claims · 7 setups

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BHD germline mutation detection rate was 88% (51/58 families) using direct DNA sequencing

peripheral blood-derived folliculin chest direct subcloning sequence
Mutation analysis of the AATF gene in breast cancer families.

PMID 20025740 · PMC2806411 · BMC cancer · 2009 · 6 claims · 6 setups

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No AATF sequence alteration identified was predicted to be pathogenic or showed significant association with breast cancer risk

genomic showing aatf case conformation direct pathogenicity

Experiments

Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2.

Molecular analysis of the BRCA1 and BRCA2 genes in 32 breast and/or ovarian cancer Spanish families.

High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area.

Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families.

Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.

Clustering by neurocognition for fine mapping of the schizophrenia susceptibility loci on chromosome 6p.

Pseudofam: the pseudogene families database.

Insights into the coupling of duplication events and macroevolution from an age profile of animal transmembrane gene families.

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

A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series.

Comprehensive benchmarking of large language models for RNA secondary structure prediction.

Testing groups of genomic locations for enrichment in disease loci using linkage scan data: a method for hypothesis testing.

Polymorphism at the C-reactive protein locus influences gene expression and predisposes to systemic lupus erythematosus.

Molecular epidemiology of DFNB1 deafness in France.

Long-term trends in evolution of indels in protein sequences.

GPCR genes are preferentially retained after whole genome duplication.

Examination of tetrahydrobiopterin pathway genes in autism.

Evaluation of models to predict BRCA germline mutations.

BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

Mutation analysis of the AATF gene in breast cancer families.