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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Has reproduction · 86
Molecular Classification Models for Triple Negative Breast Cancer Subtype Using Machine Learning.
PMID 34575658 · PMC8472680 · Journal of personalized medicine · 2021 · 6 claims · 4 setups
A training gene set of 719 unique upregulated DEGs (subtype-specific) can be used to build ML models that classify TNBC into BLIA, BLIS, MES, and LAR subtypes.
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Identification and characterization of HLA-A*0301 epitopes in HIV-1 gag proteins using a novel approach.
PMID 19903485 · PMC2836169 · Journal of immunological methods · 2010 · 7 claims · 7 setups
PS mutations V7I and I34L (p17) and K403R (p7) in HIV-1 gag significantly correlate with HLA-A*0301
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Identification of common genetic variation that modulates alternative splicing.
PMID 17571926 · PMC1904363 · PLoS genetics · 2007 · 7 claims · 8 setups
Common SNPs located close to intron-exon boundaries are associated with and causally modulate alternative splicing patterns in human genes
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A Chronic Fatigue Syndrome - related proteome in human cerebrospinal fluid.
PMID 16321154 · PMC1326206 · BMC neurology · 2005 · 7 claims · 6 setups
CFS, PGI and fibromyalgia are highly overlapping symptom complexes likely reflecting a shared underlying pathophysiological mechanism rather than distinct diseases
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Has reproduction · 87
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
PMID 39256359 · PMC11387733 · Nature communications · 2024 · 8 claims · 7 setups
Heterozygous missense or loss-of-function variants in LRRC7 cause a dominant neurodevelopmental disorder in 33 identified individuals
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The molecular landscape of ASPM mutations in primary microcephaly.
PMID 19028728 · PMC2658750 · Journal of medical genetics · 2009 · 8 claims · 7 setups
ASPM mutations are the most common cause of MCPH
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Isolated populations and complex disease gene identification.
PMID 18771588 · PMC2575505 · Genome biology · 2008 · 8 claims · 5 setups
Isolated/founder populations are useful for identifying genes underlying common complex diseases, not just rare monogenic diseases.
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The heterogeneous allelic repertoire of human toll-like receptor (TLR) genes.
PMID 19924287 · PMC2773936 · PloS one · 2009 · 8 claims · 8 setups
Human TLR genes are unequally polymorphic: TLR2, 4, 7, 8 and 9 are comparatively least diverse, whereas TLR1, 5, 6 and 10 show substantial allelic diversity.
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Variants in the estrogen receptor alpha gene and its mRNA contribute to risk for schizophrenia.
PMID 18424448 · PMC2465798 · Human molecular genetics · 2008 · 8 claims · 8 setups
Genotype CC (rs2234693/PvuII) and C-allele-containing haplotypes in ESR1 intron 1 are more frequent in African American schizophrenics than controls
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SNP selection for genes of iron metabolism in a study of genetic modifiers of hemochromatosis.
PMID 18366708 · PMC2289803 · BMC medical genetics · 2008 · 7 claims · 6 setups
Illumina validation/design scores above 0.6 are not strongly correlated with actual SNP genotyping performance (Gentrain score)
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Timing constraints of in vivo gag mutations during primary HIV-1 subtype C infection.
PMID 19890401 · PMC2768328 · PloS one · 2009 · 7 claims · 7 setups
Reverse mutations to the wild type (HIV-1C consensus) in Gag appear significantly earlier than escape mutations from the wild type during primary infection
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Investigating the genetic association between ERAP1 and ankylosing spondylitis.
PMID 19692350 · PMC2758148 · Human molecular genetics · 2009 · 8 claims · 8 setups
The genetic association between ERAP1 and AS is confirmed in an independent replication cohort
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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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A variant of the SLC10A2 gene encoding the apical sodium-dependent bile acid transporter is a risk factor for gallstone disease.
PMID 19823678 · PMC2757911 · PloS one · 2009 · 6 claims · 4 setups
SLC10A2 is a novel susceptibility gene for cholelithiasis in humans
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Applying proteomics to the diagnosis and treatment of ALS and related diseases.
PMID 19670321 · PMC2836583 · Muscle & nerve · 2009 · 8 claims · 8 setups
Protein-based biomarkers for ALS/MND require further verification and large-scale validation/qualification studies, including disease mimics, before clinical use
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Characterisation of the genomic architecture of human chromosome 17q and evaluation of different methods for haplotype block definition.
PMID 15850495 · PMC1090572 · BMC genetics · 2005 · 8 claims · 6 setups
Haplotype block definitions based on LD measures (Definitions 1, 2, 3, 5) produce fewer, shorter blocks with limited sequence coverage compared to the haplotype diversity-based method (Definition 4)
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Construction and analysis of tag single nucleotide polymorphism maps for six human-mouse orthologous candidate genes in type 1 diabetes.
PMID 15720714 · PMC551616 · BMC genetics · 2005 · 7 claims · 5 setups
None of the six candidate gene regions showed evidence of association with type 1 diabetes (all multi-locus/single-locus test P values > 0.2)
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Association of GSK3B with Alzheimer disease and frontotemporal dementia.
PMID 18852354 · PMC2841136 · Archives of neurology · 2008 · 8 claims · 5 setups
The GSK3B intronic polymorphism IVS2-68G>A is associated with increased risk of AD and FTD in a case-control cohort
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Has reproduction · 78
Tumor methionine metabolism drives T-cell exhaustion in hepatocellular carcinoma.
PMID 33674593 · PMC7935900 · Nature communications · 2021 · 8 claims · 8 setups
A transcriptome-derived T-cell exhaustion score (ES) is prognostic for HCC patient survival independent of known clinical/molecular factors
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Allelic drop-out may occur with a primer binding site polymorphism for the commonly used RFLP assay for the -1131T>C polymorphism of the Apolipoprotein AV gene.
PMID 16670016 · PMC1513378 · Lipids in health and disease · 2006 · 8 claims · 6 setups
A -987C>T polymorphism located 4bp from the 3' end of the MseI RFLP forward primer causes allelic drop-out, producing incorrect -1131T>C genotypes.