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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Gene expression study on peripheral blood identifies progranulin mutations.
PMID 18551524 · PMC2773201 · Annals of neurology · 2008 · 7 claims · 3 setups
PGRN is highly expressed in peripheral blood (97th percentile of all array genes)
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Has reproduction · 83
Gene-expression patterns in peripheral blood classify familial breast cancer susceptibility.
PMID 26538066 · PMC4634735 · BMC medical genomics · 2015 · 8 claims · 5 setups
A multigene peripheral-blood gene-expression biomarker accurately classifies which women from high-risk families develop familial breast cancer.
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Genes implicated in multiple sclerosis pathogenesis from consilience of genotyping and expression profiles in relapse and remission.
PMID 18366677 · PMC2324081 · BMC medical genetics · 2008 · 8 claims · 7 setups
Distinct sets of dysregulated genes are found in peripheral blood during the relapse phase versus the remission phase of RRMS
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Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease.
PMID 19949810 · PMC2865568 · Journal of neurology · 2010 · 7 claims · 4 setups
CNVs are a rare cause of non-CMT1A Charcot-Marie-Tooth disease
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Has reproduction · 69
Bioinformatics and system biology approaches to identify pathophysiological impact of COVID-19 to the progression and severity of neurological diseases.
PMID 34601390 · PMC8483812 · Computers in biology and medicine · 2021 · 8 claims · 8 setups
COVID-19 and neurological diseases (NDs) share pathophysiological connections that influence disease progression and severity
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Has reproduction · 80
Specific signature biomarkers highlight the potential mechanisms of circulating neutrophils in aneurysmal subarachnoid hemorrhage.
PMID 36438795 · PMC9685413 · Frontiers in pharmacology · 2022 · 7 claims · 8 setups
Six genes (CST7, HSP90AB1, PADI4, PLBD1, RAB32, SLAMF6) are signature diagnostic biomarkers for aSAH identified by LASSO and SVM-RFE.
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Has reproduction · 67
Integrative analyses reveal signaling pathways underlying familial breast cancer susceptibility.
PMID 26969729 · PMC4812528 · Molecular systems biology · 2016 · 7 claims · 6 setups
Cell adhesion (cell-cell and cell-ECM) pathways are significantly and consistently dysregulated in women who develop familial breast cancer across multiple omic data types and tissues.
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Has reproduction · 71
Developing a novel immune infiltration-associated mitophagy prediction model for amyotrophic lateral sclerosis using bioinformatics strategies.
PMID 38601155 · PMC11005030 · Frontiers in immunology · 2024 · 7 claims · 6 setups
An 18-gene mitophagy-related prognostic signature was identified by machine learning and used to build a prognostic risk score model for ALS.
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Has reproduction · 73
Identification of intrinsic genes across general hypertension, hypertension with left ventricular remodeling, and uncontrolled hypertension.
PMID 36277786 · PMC9582241 · Frontiers in cardiovascular medicine · 2022 · 7 claims · 8 setups
FBXW4 and 13 other genes are uniquely enriched in the general hypertension group
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Clues to the etiology of autoimmune diseases through analysis of immunoglobulin genes.
PMID 11879542 · PMC128918 · Arthritis research · 2002 · 8 claims · 6 setups
Antibody sequences that violate normal ontogenic/developmental constraints indicate a failure of B-cell regulation
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Geographical genomics of human leukocyte gene expression variation in southern Morocco.
PMID 19966804 · PMC2798927 · Nature genetics · 2010 · 8 claims · 8 setups
Gene expression differs substantially between locations (up to 38% of transcripts), driven largely by a rural-versus-urban lifestyle contrast rather than ethnicity or gender.
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Has reproduction · 96
Scalable Prediction of Acute Myeloid Leukemia Using High-Dimensional Machine Learning and Blood Transcriptomics.
PMID 31918046 · PMC6992905 · iScience · 2020 · 8 claims · 8 setups
Data-driven, high-dimensional ML approaches that learn multivariate signatures directly from genome-wide transcriptomic data (no prior gene selection) yield accurate and robust AML classifiers.
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Has reproduction · 64
Blood Transcriptome Analysis of Septic Patients Reveals a Long Non-Coding Alu-RNA in the Complement C5a Receptor 1 Gene.
PMID 35447887 · PMC9027897 · Non-coding RNA · 2022 · 6 claims · 7 setups
A computational pipeline intersecting immune gene coordinates with Alu element coordinates can identify candidate Alu-lncRNAs
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HLA-A gene polymorphism defined by high-resolution sequence-based typing in 161 Northern Chinese Han people.
PMID 15629059 · PMC5172246 · Genomics, proteomics & bioinformatics · 2003 · 7 claims · 5 setups
HLA-A gene shows high polymorphism in the Northern Chinese Han population, with 74 gene types and 36 alleles detected in 161 individuals
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A newly identified insertion mutation in the thyroid hormone receptor-beta gene in a Korean family with generalized thyroid hormone resistance.
PMID 17596672 · PMC2693656 · Journal of Korean medical science · 2007 · 7 claims · 8 setups
Two members of a Korean family (mother and son) with generalized RTH harbor a novel insertion mutation, 1358_1359insC, in exon 10 of the THRB gene, causing a frameshift (Leu454PhefsX11)
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FLAME, a novel fuzzy clustering method for the analysis of DNA microarray data.
PMID 17204155 · PMC1774579 · BMC bioinformatics · 2007 · 6 claims · 5 setups
FLAME captures non-linear relationships and non-globular clusters by approximating fuzzy membership from each object's nearest neighbors rather than global centroids
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The proteogenomic path towards biomarker discovery.
PMID 18764911 · PMC2574627 · Pediatric transplantation · 2008 · 8 claims · 8 setups
Serum creatinine is a widely used but non-ideal biomarker for renal transplant monitoring because it lacks specificity and sensitivity for graft injury
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Has reproduction · 75
FEM: mining biological meaning from cell level in single-cell RNA sequencing data.
PMID 34909283 · PMC8641482 · PeerJ · 2021 · 7 claims · 5 setups
The FEM algorithm converts each cell's gene expression matrix (GEM) into a functional expression matrix by applying Fisher's exact test enrichment per cell and per gene set, then encoding adjusted p-values as information content.
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Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene.
PMID 16891820 · PMC2729898 · Journal of Korean medical science · 2006 · 7 claims · 7 setups
All three unrelated Korean MM patients carried compound heterozygous mutations in the DYSF gene.
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Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.
PMID 18162506 · PMC7611804 · Diabetes · 2008 · 8 claims · 8 setups
Heterozygous INS mutations are a common cause of permanent neonatal diabetes (PNDM) diagnosed before 6 months of age