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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Has reproduction
Pleiotropic effects of MORC2 derive from its epigenetic signature.
PMID 40302207 · PMC12782172 · Brain : a journal of neurology · 2026 · 8 claims · 8 setups
A MORC2-specific DNA methylation episignature exists that is universal across all MORC2-associated phenotypes and conserved across blood and fibroblast tissue
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Identification of the REST regulon reveals extensive transposable element-mediated binding site duplication.
PMID 16899447 · PMC1557810 · Nucleic acids research · 2006 · 8 claims · 8 setups
The RE1 PSSM identifies functional RE1 binding sites with greater sensitivity and selectivity than the previously used RE1 consensus sequence
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A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.
PMID 18985071 · PMC2721823 · European journal of human genetics : EJHG · 2009 · 7 claims · 8 setups
A novel homozygous frameshift mutation (1732delA) in exon 11 of MMP2 causes MONA in this Turkish family by deleting the terminal (third and fourth) hemopexin domains.
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Has reproduction · 67
A consensus approach to vertebrate de novo transcriptome assembly from RNA-seq data: assembly of the duck (Anas platyrhynchos) transcriptome.
PMID 25009556 · PMC4070175 · Frontiers in genetics · 2014 · 8 claims · 8 setups
Multiple k-mer (MK) assemblies are more complete than single k-mer (SK) assemblies, showing higher reads-mapped-back-to-transcripts (RMBT) and higher CEGMA complete-gene percentages for all three tools.
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Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer.
PMID 19765279 · PMC2760583 · BMC genomics · 2009 · 8 claims · 5 setups
Global microarray profiling reveals 421 genes differentially expressed in DBA patient fibroblasts compared to healthy controls
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Whither genomics?
PMID 11104516 · PMC138820 · Genome biology · 2000 · 8 claims · 8 setups
Genomics is both a science (understanding genome structure/evolution) and a tool (learning gene function) that collects comprehensive data on all genes, in contrast to genetics which studies a few genes controlling a phenotype
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Ensembl 2008.
PMID 18000006 · PMC2238821 · Nucleic acids research · 2008 · 8 claims · 6 setups
The Ensembl regulatory build integrates multiple genome-wide functional genomics datasets to automatically annotate regulatory regions and assign putative functions across the genome.
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Has reproduction · 90
A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome.
PMID 30833571 · PMC6399342 · Nature communications · 2019 · 8 claims · 8 setups
16 genome-wide significant susceptibility loci for CTS were identified in UK Biobank
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Has reproduction · 67
An individualized causal framework for learning intercellular communication networks that define microenvironments of individual tumors.
PMID 36548438 · PMC9822106 · PLoS computational biology · 2022 · 8 claims · 7 setups
An individualized causal analysis framework can discover tumor-specific intercellular communication networks (ICNs) from transcriptomic data
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Has reproduction
miRge3.0: a comprehensive microRNA and tRF sequencing analysis pipeline.
PMID 34308351 · PMC8294687 · NAR genomics and bioinformatics · 2021 · 6 claims · 5 setups
miRge3.0 with 12 CPUs consistently has the best execution speed compared to miRge2.0, Chimira and sRNAbench
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Independent component analysis reveals new and biologically significant structures in micro array data.
PMID 16762055 · PMC1557674 · BMC bioinformatics · 2006 · 7 claims · 8 setups
ICA applied to three microarray datasets reveals many biologically significant components, including low-ranking ones not obvious by rank alone
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NovelFam3000--uncharacterized human protein domains conserved across model organisms.
PMID 16533400 · PMC1440326 · BMC genomics · 2006 · 8 claims · 7 setups
NovelFam3000 is an online data centre unifying bioinformatics resource links, news, comments, and user-submitted experimental data (including a Gene Characterization Index) for ~3000 uncharacterized Pfam-B/DUF domain families conserved across worm, fly, and human
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Comparative genomics reveals functional transcriptional control sequences in the Prop1 gene.
PMID 17557180 · PMC1998882 · Mammalian genome : official journal of the International Mammalian Genome Society · 2007 · 7 claims · 7 setups
A BAC transgene containing Prop1 completely rescues the Prop1 mutant (dwarf) phenotype, showing all necessary regulatory elements lie within the BAC
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Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.
PMID 18825676 · PMC2743946 · Annals of neurology · 2008 · 8 claims · 6 setups
All eight new patients had heterozygous glycine substitution mutations toward the N-terminal end of the collagen VI triple helix
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Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
PMID 18546365 · PMC2891192 · Human mutation · 2008 · 8 claims · 4 setups
POLG mutations cause at least 6 major heterogeneous phenotypes of neurodegenerative mitochondrial disease (MCHS, Alpers syndrome, ANS, MEMSA, arPEO, adPEO)
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Functional proteomics of failed filtering blebs.
PMID 20019882 · PMC2793902 · Molecular vision · 2009 · 8 claims · 6 setups
Eight proteins are differentially expressed between failed filtering bleb Tenon's tissue and control Tenon's capsule, identified by 2D-electrophoresis proteomics and MALDI-TOF MS
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The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.
PMID 19926015 · PMC2880864 · Journal of the American College of Cardiology · 2009 · 8 claims · 6 setups
Comprehensive open-reading-frame RYR2 mutational analysis reveals possible CPVT1 mutations located outside the three canonical hot-spot domains
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Novel insights into adipogenesis from omics data.
PMID 19689276 · PMC2765082 · Current medicinal chemistry · 2009 · 8 claims · 8 setups
Pparg and Cebpa are the two master transcriptional regulators governing adipogenesis
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A reliable method to display authentic DNase I hypersensitive sites at long-ranges in single-copy genes from large genomes.
PMID 16510851 · PMC1388096 · Nucleic acids research · 2006 · 6 claims · 3 setups
MDHA extends the range of classical DHA from ~20 kb increments to intervals approaching 100 kb using agarose-embedded nuclei, FIGE, and long-range Southern blotting
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Update on diabetes mellitus.
PMID 15502249 · PMC3839330 · Disease markers · 2004 · 8 claims · 7 setups
Type 1 diabetes results from selective destruction of pancreatic beta cells via T-cell and cytokine mediated autoimmune mechanisms, possibly involving destruction of peri-islet Schwann cells.