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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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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Increased frequency of the k-ras G12C mutation in MYH polyposis colorectal adenomas.
PMID 15083190 · PMC2410274 · British journal of cancer · 2004 · 8 claims · 2 setups
Somatic k-ras mutations occur in 9 of 54 (16.7%) MYH polyposis colorectal tumours, with frequency increasing with degree of dysplasia.
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Prostate cancer genomics: towards a new understanding.
PMID 19104501 · PMC2721916 · Nature reviews. Genetics · 2009 · 8 claims · 8 setups
Multiple GWAS have identified over a dozen replicated germline SNPs each associated with a modest increase in prostate cancer risk
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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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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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Getting started in computational immunology.
PMID 18769677 · PMC2518523 · PLoS computational biology · 2008 · 8 claims · 7 setups
Affinity maturation is driven by cycles of somatic hypermutation and affinity-dependent selection acting on B cell Ig receptors.
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COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer.
PMID 19906727 · PMC2808858 · Nucleic acids research · 2010 · 8 claims · 6 setups
COSMIC is the largest public resource for information on somatically acquired mutations in human cancer, freely available without restriction
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Has reproduction · 75
Stage-stratified molecular profiling of non-muscle-invasive bladder cancer enhances biological, clinical, and therapeutic insight.
PMID 35028613 · PMC8714941 · Cell reports. Medicine · 2021 · 8 claims · 8 setups
Stage-stratified molecular subclassification (analyzing Ta and T1 separately) is more biologically and clinically informative than subtypes derived from all NMIBC combined, especially for T1 tumors.
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Has reproduction · 78
Single duplex DNA sequencing with CODEC detects mutations with high sensitivity.
PMID 37106072 · PMC10181940 · Nature genetics · 2023 · 8 claims · 8 setups
CODEC concatenates both strands of an original DNA duplex into a single NGS read pair via an adapter quadruplex and strand-displacing extension, enabling single-duplex resolution
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Epidemiology of doublet/multiplet mutations in lung cancers: evidence that a subset arises by chronocoordinate events.
PMID 19005564 · PMC2579325 · PloS one · 2008 · 8 claims · 7 setups
Doublet mutations are significantly more frequent in EGFR (6.0%) and TP53 (2.3%) in human lung cancer than spontaneous doublets in mouse lacI (0.7%), about 8-fold and 3-fold higher respectively.
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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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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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Intricate targeting of immunoglobulin somatic hypermutation maximizes the efficiency of affinity maturation.
PMID 15867095 · PMC2213188 · The Journal of experimental medicine · 2005 · 7 claims · 6 setups
IgVH genes have evolved precise placement of coding-strand Cs so that AID-induced C-to-T mutations are predominantly silent, especially in the CDRs.
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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 · 89
TrEMOLO: accurate transposable element allele frequency estimation using long-read sequencing data combining assembly and mapping-based approaches.
PMID 37013657 · PMC10069131 · Genome biology · 2023 · 6 claims · 6 setups
TrEMOLO combines an assembly-based INSIDER module and a mapping-based OUTSIDER module to detect TE insertions/deletions from long-read sequencing data and estimate their allele frequency
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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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Recurrent KRAS codon 146 mutations in human colorectal cancer.
PMID 16969076 · PMC2714972 · Cancer biology & therapy · 2006 · 8 claims · 8 setups
KRAS A146 missense mutations are a recurrent, previously unrecognized class of somatic mutation in colorectal cancer
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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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Programmed genetic instability: a tumor-permissive mechanism for maintaining the evolvability of higher species through methylation-dependent mutation of DNA repair genes in the male germ line.
PMID 18535014 · PMC2464741 · Molecular biology and evolution · 2008 · 8 claims · 7 setups
Repair genes are numerically less common than apoptosis genes in the genomes of multicellular organisms
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ATBF1 and NQO1 as candidate targets for allelic loss at chromosome arm 16q in breast cancer: absence of somatic ATBF1 mutations and no role for the C609T NQO1 polymorphism.
PMID 18416817 · PMC2377272 · BMC cancer · 2008 · 8 claims · 7 setups
Five genes (NQO1, ATBF1, DBNDD1, HSBP1, CGI-38) at 16q show significantly lower mRNA expression in breast tumors with LOH at 16q compared to tumors without LOH