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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Genome Alteration Print (GAP): a tool to visualize and mine complex cancer genomic profiles obtained by SNP arrays.
PMID 19903341 · PMC2810663 · Genome biology · 2009 · 7 claims · 3 setups
GAP is a method for automatic detection of absolute segmental copy number and genotype status from SNP-array cancer genome profiles
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Has reproduction · 88
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
PMID 40963120 · PMC12445032 · Genome medicine · 2025 · 7 claims · 4 setups
Trio genome sequencing (tGS) achieves higher prospective diagnostic yield than standard-of-care (SoC) and singleton genome sequencing (sGS) even when performed by a newly trained team.
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Has reproduction · 78
Genomics Define Malignant Transformation in Myeloma Precursor Conditions.
PMID 41061199 · PMC12614327 · Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2026 · 7 claims · 5 setups
Genomic profiling can identify malignant transformation in MGUS/SMM patients, distinguishing 'genomic MM' from 'genomic MGUS' despite identical clinical/morphologic presentation
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High-resolution aCGH and expression profiling identifies a novel genomic subtype of ER negative breast cancer.
PMID 17925008 · PMC2246289 · Genome biology · 2007 · 7 claims · 8 setups
A novel subtype of high-grade ER-negative breast cancer exists, characterized by a low genomic instability index (GII)
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Recurring mutations found by sequencing an acute myeloid leukemia genome.
PMID 19657110 · PMC3201812 · The New England journal of medicine · 2009 · 8 claims · 8 setups
Deep paired tumor/normal whole-genome sequencing of a cytogenetically normal AML-M1 genome identified 12 somatic coding (tier 1) mutations and 52 somatic tier 2 (conserved/regulatory) mutations.
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Has reproduction · 35
Molecular and Clinical Relevance of ZBTB38 Expression Levels in Prostate Cancer.
PMID 32365491 · PMC7281456 · Cancers · 2020 · 8 claims · 8 setups
ZBTB38 mRNA expression is significantly lower in prostate cancer than in normal/benign prostate tissue, and further reduced in metastatic versus localised tumours
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Has reproduction · 48
Bioinformatics Analysis of the Characteristics and Correlation of m6A Methylation in Breast Cancer Progression.
PMID 35655723 · PMC9148239 · Contrast media & molecular imaging · 2022 · 8 claims · 8 setups
Breast cancer samples can be divided into 4 m6A subtypes (quiescent, m6A methylation, protein-binding, mixed) based on expression of m6A-related genes, with consistent proportions across datasets
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Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA.
PMID 18955570 · PMC2585845 · The Journal of experimental medicine · 2008 · 7 claims · 8 setups
Familial primary PAP is caused by compound heterozygous mutations in CSF2RA: a paternal G174R point mutation and a maternal 1.6-Mb deletion at Xp22.33 encompassing CSF2RA.
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Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.
PMID 18616530 · PMC4732719 · Clinical genetics · 2008 · 8 claims · 8 setups
TMC1 mutations were identified in seven of the families/patients segregating hearing loss linked to DFNA36/DFNB7-11
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Has reproduction · 61
A comprehensive resource of genomic, epigenomic and transcriptomic sequencing data for the black truffle Tuber melanosporum.
PMID 25392735 · PMC4228822 · GigaScience · 2014 · 8 claims · 8 setups
T. melanosporum shows a high rate of cytosine methylation (>44%) that selectively targets transposable elements rather than genes, with a strong preference for CpG sites.
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Has reproduction · 49
Aberration in DNA methylation in B-cell lymphomas has a complex origin and increases with disease severity.
PMID 23326238 · PMC3542081 · PLoS genetics · 2013 · 8 claims · 8 setups
B-cell non-Hodgkin lymphomas display striking intra-tumor (intra-sample) and inter-patient (inter-sample) cytosine methylation heterogeneity that increases progressively with disease aggressiveness (NBC<NGC<FL<GCB<ABC).
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Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2.
PMID 18211709 · PMC2248204 · BMC neurology · 2008 · 6 claims · 4 setups
Pathogenic mutations in PRKN and LRRK2, but not SNCA or PINK1, are found in a Portuguese cohort of early-onset/familial PD patients