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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Completing the map of human genetic variation.
PMID 17495918 · PMC2685471 · Nature · 2007 · 8 claims · 5 setups
A community resource initiative will sequence fosmid and BAC clone libraries from 62 HapMap individuals to systematically discover and resolve structural genetic variants at nucleotide resolution
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Alteration of the copy number and deletion of mitochondrial DNA in human hepatocellular carcinoma.
PMID 15150555 · PMC2409531 · British journal of cancer · 2004 · 8 claims · 5 setups
mtDNA copy number and the content of mitochondrial respiratory proteins are reduced in HCC tumor tissue compared with corresponding non-tumorous liver.
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A Hidden Markov Model to estimate population mixture and allelic copy-numbers in cancers using Affymetrix SNP arrays.
PMID 17996079 · PMC2206057 · BMC bioinformatics · 2007 · 8 claims · 7 setups
An HMM using paired germline genotype calls and tumour allelic SNP intensities can estimate allele-specific copy-numbers, distinguishing events like uniparental disomy from allelic imbalance.
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Complex landscapes of somatic rearrangement in human breast cancer genomes.
PMID 20033038 · PMC3398135 · Nature · 2009 · 8 claims · 6 setups
There are more somatic rearrangements in some breast cancers than previously appreciated by cytogenetic methods.
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An integrative approach to reveal driver gene fusions from paired-end sequencing data in cancer.
PMID 19881495 · PMC3086882 · Nature biotechnology · 2009 · 8 claims · 8 setups
A 'concept signature' (ConSig) score algorithm ranks genes by association with molecular concepts characteristic of fusion or mutation cancer genes, nominating biologically important fusions from large candidate sets.
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Has reproduction · 58
Genomic Correlates of Virulence Attenuation in the Deadly Amphibian Chytrid Fungus, Batrachochytrium dendrobatidis.
PMID 26333840 · PMC4632049 · G3 (Bethesda, Md.) · 2015 · 8 claims · 8 setups
Virulence attenuation in the longer-passaged Bd isolate (JEL427-P39) is associated with loss of chromosome copy number relative to the shorter-passaged, more virulent isolate (JEL427-P9)
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Paired-end mapping reveals extensive structural variation in the human genome.
PMID 17901297 · PMC2674581 · Science (New York, N.Y.) · 2007 · 8 claims · 8 setups
Paired-end mapping (PEM) combining 3-kb fragment paired-end capture, massive 454 sequencing, and computational mapping detects SVs ~3 kb or larger with an average breakpoint resolution of 644 bp
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Significance of somatic mutations and content alteration of mitochondrial DNA in esophageal cancer.
PMID 16620376 · PMC1459869 · BMC cancer · 2006 · 8 claims · 3 setups
Somatic mtDNA mutations are frequent in esophageal cancer, found in 55% (11/20) of tumors analyzed
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Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing.
PMID 18438408 · PMC2705838 · Nature genetics · 2008 · 8 claims · 8 setups
Massively parallel paired-end sequencing can characterize somatic and germline structural rearrangements to base-pair resolution across a whole cancer genome
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Loss of heterozygosity at 2q37 in sporadic Wilms' tumor: putative role for miR-562.
PMID 19789318 · PMC2756455 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 8 setups
2q37 harbors a tumor suppressor gene important in Wilms tumor pathogenesis
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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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Has reproduction · 84
Single-cell protein activity analysis reveals aberrant myogenesis and IGF2-PI3K pathway dependencies in MYOD1-mutant rhabdomyosarcoma.
PMID 41758938 · PMC12947870 · Science advances · 2026 · 8 claims · 8 setups
MYOD1 L122R-mutant SRMS tumors contain three coexisting, conserved cell states (progenitor, transition, differentiated) reflecting aberrant myogenic differentiation
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Genome wide identification of recessive cancer genes by combinatorial mutation analysis.
PMID 18846217 · PMC2557123 · PloS one · 2008 · 7 claims · 4 setups
A combinatorial mutation analysis identified 154 candidate recessive cancer genes (pRecessiveCancer<1.5x10-7, FDR=0.39)
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Short tandem repeat sequences in the Mycoplasma genitalium genome and their use in a multilocus genotyping system.
PMID 18664269 · PMC2515158 · BMC microbiology · 2008 · 8 claims · 7 setups
18 STR loci (1-5 base repeat units, copy number 4-26) were identified in the M. genitalium G37 genome via bioinformatics analysis.
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Stabilizing mutation of CTNNB1/beta-catenin and protein accumulation analyzed in a large series of parathyroid tumors of Swedish patients.
PMID 18541010 · PMC2435117 · Molecular cancer · 2008 · 8 claims · 5 setups
The CTNNB1 stabilizing mutation S37A was detected in 6 of 104 (5.8%) sporadic parathyroid adenomas by direct DNA sequencing.
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Next-generation sequencing.
PMID 20030863 · PMC2797692 · Breast cancer research : BCR · 2009 · 8 claims · 7 setups
Massively parallel sequencing can simultaneously capture base-pair mutations, copy number aberrations and somatic rearrangements of a cancer genome in a single experiment
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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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Visualization-based discovery and analysis of genomic aberrations in microarray data.
PMID 15953389 · PMC1181623 · BMC bioinformatics · 2005 · 8 claims · 7 setups
ChARMView integrates dynamic visualization with automated statistical analysis (EM-based breakpoint detection, one-sample sign test, permutation mean test) to discover chromosomal aberrations from array CGH and gene expression data
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Challenges and standards in integrating surveys of structural variation.
PMID 17597783 · PMC2698291 · Nature genetics · 2007 · 7 claims · 5 setups
There is no standard approach to collecting, assessing the quality of, or describing structural variants, risking the entire genome eventually being labeled 'structurally variant' based on uncurated nondisease-sample data.
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Search for genomic alterations in monozygotic twins discordant for cleft lip and/or palate.
PMID 19803774 · PMC2893889 · Twin research and human genetics : the official journal of the International Society for Twin Studies · 2009 · 7 claims · 5 setups
Postzygotic genomic alterations are not a common cause of monozygotic twin discordance for isolated cleft lip and/or palate.