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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Multilocus analysis of SNP and metabolic data within a given pathway.
PMID 16412218 · PMC1382210 · BMC genomics · 2006 · 8 claims · 7 setups
The combinatorial partitioning method (CPM) with optimal thresholds can identify SNPs associated with quantitative metabolite levels rather than only categorical traits.
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A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.
PMID 19763161 · PMC2730533 · PLoS genetics · 2009 · 7 claims · 8 setups
A heterozygous SCN9A missense mutation (p.N641Y) cosegregates with febrile seizures in the large K4425 family and is absent from ethnically matched population controls
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Has reproduction · 90
Developmental hematopoietic stem cell variation explains clonal hematopoiesis later in life.
PMID 39592593 · PMC11599844 · Nature communications · 2024 · 8 claims · 2 setups
Weak selection conferred by HSC variation created before birth can reliably yield clonal hematopoiesis later in life, demonstrated via shared prenatal circulation of monozygotic (MZ) twins.
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Has reproduction · 100
Gene signature discovery and systematic validation across diverse clinical cohorts for TB prognosis and response to treatment.
PMID 37471455 · PMC10393163 · PLoS computational biology · 2023 · 8 claims · 7 setups
A network-based meta-analysis of 27 discovery cohorts identified a common 45-gene signature specific to active TB disease across studies.
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Pharmaco-proteomic study of hydroxyurea-induced modifications in the sickle red blood cell membrane proteome.
PMID 18849548 · PMC4260454 · Experimental biology and medicine (Maywood, N.J.) · 2008 · 6 claims · 6 setups
50 μM HU treatment of SS RBC membranes causes statistically significant changes in a discrete set of membrane proteins, distinct from HbF induction.
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Rapid detection of SMARCB1 sequence variation using high resolution melting.
PMID 20003390 · PMC2801682 · BMC cancer · 2009 · 8 claims · 6 setups
HRM screening of SMARCB1 amplicons has a zero false negative rate compared to direct sequencing
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Normalization of Illumina Infinium whole-genome SNP data improves copy number estimates and allelic intensity ratios.
PMID 18831757 · PMC2572624 · BMC bioinformatics · 2008 · 6 claims · 4 setups
A dye intensity bias between the two channels (X/Y, Cy5/Cy3) of the Infinium II assay remains after BeadStudio's proprietary normalization.
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Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study.
PMID 16672055 · PMC1468397 · BMC medical genetics · 2006 · 6 claims · 5 setups
Molecular beacon-based real-time PCR assays for p.C282Y and p.H63D achieve complete genotype concordance with restriction enzyme digestion and direct sequencing
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Adaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutation.
PMID 18997096 · PMC4836613 · Investigative ophthalmology & visual science · 2009 · 7 claims · 8 setups
High T8993C mutant load (>77%) is associated with severe neurologic and/or retinal abnormalities, while low mutant load (42-54%) causes no detectable abnormalities.
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Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations.
PMID 19715579 · PMC2741446 · BMC medical genetics · 2009 · 8 claims · 6 setups
Three loci (2q24, 11q23.1-25, 13q14.11-21.33) were identified by both the microsatellite and SNP genome-wide scans