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).
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Genotype differences in cognitive functioning in Noonan syndrome.
PMID 19077116 · PMC2760992 · Genes, brain, and behavior · 2009 · 8 claims · 6 setups
Genotype differences account for some of the variation in cognitive ability in Noonan syndrome
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Isolated eyelid closure myotonia in two families with sodium channel myotonia.
PMID 19876661 · PMC2854355 · Neurogenetics · 2010 · 6 claims · 5 setups
The L250P mutation in SCN4A is associated with a strictly isolated eyelid closure myotonia phenotype
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ADZE: a rarefaction approach for counting alleles private to combinations of populations.
PMID 18779233 · PMC2732282 · Bioinformatics (Oxford, England) · 2008 · 6 claims · 2 setups
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.
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Has reproduction · 50
huSA: a comprehensive database for multi-dimensional resolution of bulk, single cell and spatial transcription profiles in skin diseases.
PMID 41719583 · PMC12923168 · Database : the journal of biological databases and curation · 2026 · 7 claims · 8 setups
huSA is a comprehensive, publicly accessible database integrating bulk RNA-seq, scRNA-seq, and spatial transcriptomics data across 17 skin diseases and 63 independent datasets
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Neuroscience in the era of functional genomics and systems biology.
PMID 19829370 · PMC3645852 · Nature · 2009 · 8 claims · 7 setups
Omics/discovery-based approaches do not eschew hypotheses but elevate hypothesis testing to high-throughput hypothesis generation and prioritization.
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Screening large-scale association study data: exploiting interactions using random forests.
PMID 15588316 · PMC545646 · BMC genetics · 2004 · 7 claims · 3 setups
Random forest importance measure significantly outperforms the Fisher Exact test as a screening tool when risk SNPs interact.
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Increased risk of breast cancer among female relatives of patients with ataxia-telangiectasia: a causal relationship?
PMID 16222317 · PMC2361617 · British journal of cancer · 2005 · 6 claims · 3 setups
Breast cancer risk is strongly and significantly elevated specifically among mothers of AT patients (SIR=7.14), consistent with Olsen et al's finding (SIR=6.7)
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Has reproduction · 64
Celline: a flexible tool for one-step retrieval and integrative analysis of public single-cell RNA sequencing data.
PMID 41458999 · PMC12738925 · Frontiers in bioinformatics · 2025 · 8 claims · 6 setups
Celline is a Python package that automates the full scRNA-seq workflow (retrieval, metadata extraction, preprocessing, cell-type annotation, batch correction, trajectory inference) via single-line commands.
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Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study.
PMID 18539534 · PMC2832754 · The Lancet. Neurology · 2008 · 8 claims · 7 setups
LRRK2-associated PD can be distinguished from idiopathic PD by a more benign motor and non-motor phenotype
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Variation in breast cancer risk in BRCA1 and BRCA2 mutation carriers.
PMID 18710587 · PMC2575529 · Breast cancer research : BCR · 2008 · 8 claims · 4 setups
Lifetime breast cancer risk estimates in BRCA1/2 mutation carriers vary widely (roughly 40% to >80%) depending on the study population and ascertainment method
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Glioblastoma subclasses can be defined by activity among signal transduction pathways and associated genomic alterations.
PMID 19915670 · PMC2771920 · PloS one · 2009 · 8 claims · 6 setups
Proteomic analysis of glioma samples reveals three signaling subclasses of GBM associated with predominant EGFR activation, PDGFR activation, or loss of NF1
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Has reproduction · 78
Fungal metabarcoding data integration framework for the MycoDiversity DataBase (MDDB).
PMID 32463383 · PMC7734503 · Journal of integrative bioinformatics · 2020 · 7 claims · 4 setups
Public fungal metabarcoding raw DNA data and their associated environmental metadata in sequence archives are heterogeneously annotated and lack a uniform processing pipeline, preventing large-scale biodiversity/distribution assessments.
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Has reproduction · 75
The formation of avian montane diversity across barriers and along elevational gradients.
PMID 35022441 · PMC8755808 · Nature communications · 2022 · 8 claims · 8 setups
Genetic differentiation is generally greater across the oceanic barrier separating Buru and Seram than across the lowland barrier separating New Guinea mountain ranges.
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Association between alcoholism and the genetic polymorphisms of the GABAA receptor genes on chromosome 5q33-34 in Korean population.
PMID 16778401 · PMC2729963 · Journal of Korean medical science · 2006 · 6 claims · 5 setups
Genetic polymorphisms of the GABA A α1 and α6 receptor genes are significantly associated with alcohol dependence, surviving Bonferroni correction.
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On the association between chromosomal rearrangements and genic evolution in humans and chimpanzees.
PMID 17971225 · PMC2246304 · Genome biology · 2007 · 8 claims · 4 setups
Genes located in rearranged chromosomes show lower non-coding (KI), synonymous (KS), and non-synonymous (KA) divergence than genes in colinear chromosomes.
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Characterisation of the genetic diversity of Brucella by multilocus sequencing.
PMID 17448232 · PMC1877810 · BMC microbiology · 2007 · 8 claims · 5 setups
Brucella isolates show low overall genetic diversity (1.5%) across nine sequenced loci, confirming the genus is genetically conserved.
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Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.
PMID 18948357 · PMC3044481 · Journal of medical genetics · 2009 · 8 claims · 6 setups
TGM1 germline mutations were identified in 55% (57/104) of patients with ARCI
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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
EDN SNP rs1800542 is associated with increased ischemic stroke risk in Caucasian women
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A note on generalized Genome Scan Meta-Analysis statistics.
PMID 15717930 · PMC551600 · BMC bioinformatics · 2005 · 7 claims · 3 setups
An Edgeworth series approximation to the null distribution of the weighted GSMA statistic provides a more accurate representation than the normal approximation, especially in the tails
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PedGenie: an analysis approach for genetic association testing in extended pedigrees and genealogies of arbitrary size.
PMID 16620382 · PMC1459209 · BMC bioinformatics · 2006 · 7 claims · 3 setups
PedGenie is a valid, flexible statistical tool for genetic association analysis in pedigrees of arbitrary size and structure using Monte Carlo significance testing