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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Alcohol consumption and breast tumor mitochondrial DNA mutations.
PMID 19847642 · PMC4403627 · Breast cancer research and treatment · 2010 · 8 claims · 6 setups
Somatic mtDNA mutations are a frequent occurrence in breast tumors
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INI1 mutations in meningiomas at a potential hotspot in exon 9.
PMID 11161377 · PMC2363707 · British journal of cancer · 2001 · 6 claims · 5 setups
A recurrent somatic INI1 mutation (G1130A, Arg377His) occurs at a hotspot in exon 9 in a subset of meningiomas.
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A novel approach for rapid screening of mitochondrial D310 polymorphism.
PMID 16433919 · PMC1388229 · BMC cancer · 2006 · 7 claims · 4 setups
A single-step BsaXI RFLP assay can rapidly determine 7-C carriers at the D310 first polyC stretch of mtDNA without sequencing
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Genomic variability associated with the presence of occult hepatitis B virus in HIV co-infected individuals.
PMID 19889143 · PMC3032083 · Journal of viral hepatitis · 2010 · 7 claims · 8 setups
O-HBV-associated mutations in PreS/S/polymerase regions likely contribute to undetectable HBsAg by interfering with serologic detection, altering antigen secretion, and/or decreasing replicative fitness
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Mutational analysis of mismatch repair genes, hMLH1 and hMSH2, in sporadic endometrial carcinomas with microsatellite instability.
PMID 8609062 · PMC5921065 · Japanese journal of cancer research : Gann · 1996 · 5 claims · 2 setups
Mutations of hMLH1 or hMSH2 play only a limited role in the development of sporadic endometrial carcinomas.
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Has reproduction · 89
In vivo antiviral host transcriptional response to SARS-CoV-2 by viral load, sex, and age.
PMID 32898168 · PMC7478592 · PLoS biology · 2020 · 8 claims · 6 setups
SARS-CoV-2 infection induces a strong interferon-mediated antiviral response in the nasopharynx, up-regulating antiviral factors (OAS1-3, IFIT1-3, MX2, RSAD2, HERC5) and Th1 chemokines CXCL9/10/11, while down-regulating ribosomal protein transcripts.
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Microsatellite instability and mismatch repair gene inactivation in sporadic pancreatic and colon tumours.
PMID 10389971 · PMC2363009 · British journal of cancer · 1999 · 6 claims · 5 setups
Microsatellite instability is common in sporadic pancreatic cancer but occurs at a uniformly low rate and is not accompanied by hMLH1/hMSH2 alterations, suggesting it does not drive pancreatic tumorigenesis.
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Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremor.
PMID 18718804 · PMC2877193 · Parkinsonism & related disorders · 2009 · 7 claims · 6 setups
Mutations in the coding sequence and splice sites of human SCN8A do not appear to be a common cause of autosomal dominant essential tremor in Caucasian patients.
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Has reproduction · 87
Genetic demultiplexing of pooled single-cell RNA-sequencing samples in cancer facilitates effective experimental design.
PMID 34553212 · PMC8458035 · GigaScience · 2021 · 8 claims · 7 setups
Genetic variation–based demultiplexing tools can be effectively deployed on cancer scRNA-seq tissue using a pooled experimental design, achieving high recall at acceptable precision-recall tradeoffs in both high-CNV (HGSOC) and high-SNV (lung adenocarcinoma) cancers, even with extremely high doublet proportions.
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CpG island methylation status and mutation analysis of the RB1 gene essential promoter region and protein-binding pocket domain in nervous system tumours.
PMID 12556968 · PMC2376780 · British journal of cancer · 2003 · 8 claims · 4 setups
RB1 CpG island hypermethylation is a common epigenetic event associated with development of malignant nervous system tumours
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Development of a fluorescent multiplex assay for detection of MSI-High tumors.
PMID 15528789 · PMC3839403 · Disease markers · 2004 · 8 claims · 7 setups
Mononucleotide markers are the most sensitive and specific microsatellite marker type for detecting MSI-H tumors with MMR defects
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DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.
PMID 18987736 · PMC2603574 · Nature · 2008 · 8 claims · 8 setups
Whole genome sequencing can identify unbiased, novel somatic mutations in a cytogenetically normal AML genome that would not have been found by candidate-gene resequencing.
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A comprehensive catalogue of somatic mutations from a human cancer genome.
PMID 20016485 · PMC3145108 · Nature · 2010 · 8 claims · 7 setups
Whole-genome sequencing of COLO-829 melanoma cells and matched COLO-829BL normal cells produced the first comprehensive catalogue of somatic mutations from an individual cancer genome
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Alterations in candidate genes PHF2, FANCC, PTCH1 and XPA at chromosomal 9q22.3 region: pathological significance in early- and late-onset breast carcinoma.
PMID 18990233 · PMC2633285 · Molecular cancer · 2008 · 8 claims · 5 setups
PHF2, FANCC and PTCH1 show high frequency of alterations (deletion/methylation) compared to XPA in both early- and late-onset breast carcinoma groups
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SNP@Evolution: a hierarchical database of positive selection on the human genome.
PMID 19732458 · PMC2755008 · BMC evolutionary biology · 2009 · 7 claims · 6 setups
SNP@Evolution is a hierarchical database integrating HET, FST, and iHS from HapMap Phase II and III to identify genome-wide positive selection signals
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A novel, non-functional, COL1A1 polymorphism is not associated with lumbar disk disease in young male Greek subjects unlike that of the Sp1 site.
PMID 18694864 · PMC3124709 · Hormones (Athens, Greece) · 2008 · 5 claims · 3 setups
The COL1A1 3'UTR 4bp insertion polymorphism (A1/A2 alleles) is not associated with LDD in young male Greek subjects
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Has reproduction · 94
iBRIDGE: A Data Integration Method to Identify Inflamed Tumors from Single-cell RNA-Seq Data and Differentiate Cell Type-Specific Markers of Immune-Cell Infiltration.
PMID 37023414 · PMC10236149 · Cancer immunology research · 2023 · 8 claims · 8 setups
Malignant cells cluster by patient in scRNA-seq data while immune and stromal cells cluster by cell type, making malignant cells uniquely suited to carry patient-level inflamed/cold signal
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Analysis of human sarcospan as a candidate gene for CFEOM1.
PMID 11180757 · PMC29083 · BMC genetics · 2001 · 7 claims · 5 setups
Sarcospan sequence is unmutated in all six CFEOM1 families studied
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BreakDancer: an algorithm for high-resolution mapping of genomic structural variation.
PMID 19668202 · PMC3661775 · Nature methods · 2009 · 8 claims · 8 setups
BreakDancer (BreakDancerMax + BreakDancerMini) is a software package that predicts a wide variety of structural variants including deletions, insertions, inversions, and intra/inter-chromosomal translocations from paired-end short-insert sequencing reads.
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A common missense variant in BRCA2 predisposes to early onset breast cancer.
PMID 16280055 · PMC1410744 · Breast cancer research : BCR · 2005 · 7 claims · 4 setups
BRCA2 C5972T homozygosity (TT genotype) is rare but confers a roughly five-fold increased risk of breast cancer.