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 stem cell population of the human colon crypt: analysis via methylation patterns.
PMID 17335343 · PMC1808490 · PLoS computational biology · 2007 · 8 claims · 3 setups
A coalescent-based, full probabilistic model with MCMC Bayesian inference provides a more powerful alternative to prior forward-simulation approaches for analyzing methylation pattern data from crypts.
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Has reproduction · 99
Systematic benchmarking of tools for CpG methylation detection from nanopore sequencing.
PMID 34103501 · PMC8187371 · Nature communications · 2021 · 7 claims · 4 setups
Nanopore methylation detection tools exhibit a tradeoff between false positives and false negatives and high dispersion relative to expected per-site methylation frequencies.
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Decoding of superimposed traces produced by direct sequencing of heterozygous indels.
PMID 18654614 · PMC2429969 · PLoS computational biology · 2008 · 7 claims · 3 setups
A dynamic programming method (implemented as web app Indelligent) can decode superimposed allelic sequences from a single mixed trace, using only the observed string of ambiguous peak calls, without a reference sequence or reverse trace.
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Has reproduction · 53
Gene Dosage Analysis on the Single-Cell Transcriptomes Linking Cotranslational Protein Targeting to Metastatic Triple-Negative Breast Cancer.
PMID 34577617 · PMC8472593 · Pharmaceuticals (Basel, Switzerland) · 2021 · 7 claims · 5 setups
A computational framework integrating independently measured CNV (DNA sequencing) and single-cell RNA-seq from the same patients identifies recurrent concordant copy number gain and gene upregulation (CNG-UP) events and functional modules at the single-cell level.
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Genomics research and malaria control: great expectations.
PMID 14624242 · PMC261879 · PLoS biology · 2003 · 8 claims · 8 setups
Genomics research on humans, P. falciparum, and An. gambiae holds great promise for developing new drugs, vaccines, diagnostics, and vector control tools for malaria.
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From Pasteur to genomics: progress and challenges in infectious diseases.
PMID 15516917 · PMC7096024 · Nature medicine · 2004 · 8 claims · 8 setups
Genomic sequencing has revealed the blueprint of most pathogens, enabling new diagnostics, therapeutics and vaccines including for previously uncultivable agents.
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Sushi gets serious: the draft genome sequence of the pufferfish Fugu rubripes.
PMID 12225591 · PMC139409 · Genome biology · 2002 · 8 claims · 7 setups
The Fugu rubripes draft genome sequence was generated by whole-genome shotgun sequencing assembled to ~5.6x coverage using the JAZZ pipeline.
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Genomic rearrangements by LINE-1 insertion-mediated deletion in the human and chimpanzee lineages.
PMID 16034026 · PMC1179734 · Nucleic acids research · 2005 · 8 claims · 6 setups
L1 insertions are directly responsible for genomic deletions (L1IMDs) confirmed in both human and chimpanzee genomes
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In silico whole-genome screening for cancer-related single-nucleotide polymorphisms located in human mRNA untranslated regions.
PMID 17201911 · PMC1774567 · BMC genomics · 2007 · 8 claims · 5 setups
A computational EST-based pipeline can identify UTR-SNPs that are statistically over-represented in cancerous versus normal tissue libraries
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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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The 21st century hepatologist and a systems biology based approach to liver diseases.
PMID 19026013 · PMC2712824 · Hepatology (Baltimore, Md.) · 2008 · 7 claims · 3 setups
Network models covering the majority of an organism's genes can accurately predict phenotypic effects of gene perturbations in multicellular organisms
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Genome-wide analysis of the human Alu Yb-lineage.
PMID 15588477 · PMC3525081 · Human genomics · 2004 · 8 claims · 6 setups
1,733 Alu Yb-lineage elements are present on human autosomal chromosomes
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Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia.
PMID 16968793 · PMC1865081 · The Journal of clinical endocrinology and metabolism · 2006 · 8 claims · 7 setups
Homozygous StAR missense mutations Val187Met and Arg188Cys cause a novel, milder form of lipoid CAH ('non-classic lipoid CAH') presenting at 2-4 years of age rather than in infancy
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EGASP: Introduction.
PMID 16925831 · PMC1810546 · Genome biology · 2006 · 8 claims · 5 setups
Computational gene finding methods, when compared to the GENCODE golden standard annotation, show that the human genome annotation is nearly complete in terms of novel protein-coding loci.
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Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study.
PMID 17940071 · PMC2990861 · Human reproduction (Oxford, England) · 2007 · 8 claims · 7 setups
A novel heterozygous V355M missense mutation in SF1 was identified in one boy with micropenis and testicular regression syndrome (bilateral anorchia)
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Endonuclease-independent insertion provides an alternative pathway for L1 retrotransposition in the human genome.
PMID 17517773 · PMC1920257 · Nucleic acids research · 2007 · 8 claims · 5 setups
An endonuclease-independent pathway (NCLI) for L1 insertion has been active in recent human genome evolution
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Rise of the machines.
PMID 18670625 · PMC2467494 · PLoS genetics · 2008 · 8 claims · 4 setups
New short-read sequencing platforms (Illumina Genome Analyzer, 454 FLX, ABI SOLiD) enable rapid, scalable whole-genome resequencing that was previously restricted to dedicated sequencing centers using Sanger methods.
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Probing the cancer genome.
PMID 18492227 · PMC2441462 · Genome biology · 2008 · 8 claims · 8 setups
Combined Sanger and 454 pyrosequencing of MCF-7 BAC clones identified 157 PCR-confirmed translocation breakpoint junctions, including 10 in-frame junctions confirmed at the transcript level
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Inter-individual variation of DNA methylation and its implications for large-scale epigenome mapping.
PMID 18413340 · PMC2425484 · Nucleic acids research · 2008 · 8 claims · 8 setups
CpG-rich regions (CpG islands) show low and similar methylation levels across individuals, but the sequential order of the few methylated CpGs among the many unmethylated ones varies randomly between individuals.
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Has reproduction · 89
Structural modeling and functional characterization of a novel gain-of-function TLR8 variant causing severe inflammatory syndrome.
PMID 41729082 · PMC12956005 · JCI insight · 2026 · 8 claims · 8 setups
TLR8 A518T is a gain-of-function variant that enhances NF-κB activation and increases secretion of proinflammatory cytokines upon stimulation compared with WT TLR8