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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The specificity of the FOXL2 c.402C>G somatic mutation: a survey of solid tumors.
PMID 19956657 · PMC2777318 · PloS one · 2009 · 6 claims · 4 setups
The FOXL2 c.402C>G mutation is not commonly found in a wide variety of other cancers and is likely pathognomonic for A-GCTs and closely related tumors.
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Cancer-specific high-throughput annotation of somatic mutations: computational prediction of driver missense mutations.
PMID 19654296 · PMC2763410 · Cancer research · 2009 · 7 claims · 7 setups
CHASM, a Random Forest-based computational method, was developed to identify and prioritize missense mutations likely to be functional drivers of tumor cell proliferation.
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Fifty Generations of Amitosis: Tracing Asymmetric Allele Segregation in Polyploid Cells with Single-Cell DNA Sequencing.
PMID 34576874 · PMC8467633 · Microorganisms · 2021 · 7 claims · 7 setups
Amitosis causes random assortment of somatic alleles (IESs) in the highly polyploid Paramecium macronucleus, which can be tracked without phenotypic markers using scDNA-seq.
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Molecular genetic diagnosis of von Hippel-Lindau disease: analysis of five Japanese families.
PMID 8641976 · PMC5921130 · Japanese journal of cancer research : Gann · 1996 · 5 claims · 3 setups
Four of five Japanese VHL disease families showed germ line VHL gene mutations, comprising 2 missense mutations, 1 deletion, and 1 splice-site mutation
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Complex genetic diseases: controversy over the Croesus code.
PMID 11532206 · PMC138948 · Genome biology · 2001 · 8 claims · 3 setups
The common disease/common variant hypothesis is predicted by population genetic theory (founder population dynamics, mutation-drift-selection balance) and supported by empirical examples such as APOE*E4.
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Has reproduction · 50
TOSCA: an automated Tumor Only Somatic CAlling workflow for somatic mutation detection without matched normal samples.
PMID 36699358 · PMC9710689 · Bioinformatics advances · 2022 · 6 claims · 2 setups
TOSCA is the first automated, open-source, end-to-end tumor-only somatic calling workflow for WES and targeted panel sequencing data.
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Has reproduction · 69
Meta-analysis of six dairy cattle breeds reveals biologically relevant candidate genes for mastitis resistance.
PMID 39009986 · PMC11247842 · Genetics, selection, evolution : GSE · 2024 · 5 claims · 8 setups
Meta-analysis of GWAS across six dairy cattle breeds identifies 58 lead markers associated with clinical mastitis and somatic cell score
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Has reproduction · 88
Constructing an APOBEC-related gene signature with predictive value in the overall survival and therapeutic sensitivity in lung adenocarcinoma.
PMID 37954334 · PMC10637964 · Heliyon · 2023 · 8 claims · 8 setups
APOBEC family genes are differentially expressed across cancer types and tissues, with APOBEC3B being the most aberrantly upregulated gene in most cancers including LUAD
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Does tumorigenesis select for or against mutations of the DNA repair-associated genes BRCA2 and MRE11?: considerations from somatic mutations in microsatellite unstable (MSI) gastrointestinal cancers.
PMID 16417627 · PMC1382246 · BMC genetics · 2006 · 8 claims · 7 setups
Heterozygous truncating BRCA2 mutations occur in 47% (7/15) of gastrointestinal MSI cancer cell lines/xenografts, a higher rate than previously reported
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Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia.
PMID 19120350 · PMC2724897 · British journal of haematology · 2009 · 8 claims · 4 setups
JAK2 R683 point mutations occur in 18.9% (10/53) of DS ALL cases, confirming the previously reported incidence.
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Associations between cigarette smoking and mitochondrial DNA abnormalities in buccal cells.
PMID 18281252 · PMC2443276 · Carcinogenesis · 2008 · 7 claims · 4 setups
Cigarette smoking is associated with a higher frequency of somatic mtDNA mutations in buccal cells
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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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B lymphocytes of xeroderma pigmentosum or Cockayne syndrome patients with inherited defects in nucleotide excision repair are fully capable of somatic hypermutation of immunoglobulin genes.
PMID 9236193 · PMC2198998 · The Journal of experimental medicine · 1997 · 6 claims · 3 setups
EBV-transformed B cells from NER-defective patients (XP-B, XP-D, XP-V, CS-A) show a high frequency of point mutations in Ig heavy and light chain V regions but not in C regions
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Alexander Meissner: learning the reprogramming code.
PMID 19704017 · PMC2733751 · The Journal of cell biology · 2009 · 8 claims · 6 setups
A defined set of factors present in oocytes and embryonic stem (ES) cells can reprogram a somatic cell to pluripotency, as shown by nuclear transfer and ES cell/somatic cell fusion experiments
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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 · 64
Nimbus: a design-driven analyses suite for amplicon-based NGS data.
PMID 29538618 · PMC6084620 · Bioinformatics (Oxford, England) · 2018 · 7 claims · 5 setups
Nimbus tracks the source amplicon of reads throughout alignment and SNP/InDel calling
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Has reproduction · 68
Mod(mdg4) variants repress telomeric retrotransposon HeT-A by blocking subtelomeric enhancers.
PMID 36373634 · PMC9723646 · Nucleic acids research · 2022 · 8 claims · 8 setups
Specific splice variants of Mod(mdg4) repress HeT-A by blocking subtelomeric enhancers in ovarian somatic cells (OSCs)
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Core signaling pathways in human pancreatic cancers revealed by global genomic analyses.
PMID 18772397 · PMC2848990 · Science (New York, N.Y.) · 2008 · 8 claims · 6 setups
Pancreatic cancers contain an average of 63 genetic alterations, the majority of which are point mutations
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Has reproduction · 83
Multiomic machine learning on lactylation for molecular typing and prognosis of lung adenocarcinoma.
PMID 39856156 · PMC11760357 · Scientific reports · 2025 · 8 claims · 8 setups
Ten multiomics clustering algorithms identify two distinct lactylation cancer subtypes (CS1 and CS2) in LUAD
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Has reproduction
Mapping the Development of Human Spermatogenesis Using Transcriptomics-Based Data: A Scoping Review.
PMID 39000031 · PMC11241379 · International journal of molecular sciences · 2024 · 8 claims · 8 setups
scRNA-seq of human testis reveals major transcriptional modifications occurring around 11 years of age, marking a transition toward the adult cellular state