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 · 71
A crowdsourced set of curated structural variants for the human genome.
PMID 32559231 · PMC7329145 · PLoS computational biology · 2020 · 7 claims · 6 setups
A crowdsourcing web application (SVCurator) enables curators to manually review and label large indels and SVs by displaying short, long, and linked read sequencing evidence from GIAB HG002.
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Identification of a novel functional deletion variant in the 5'-UTR of the DJ-1 gene.
PMID 19825160 · PMC2767350 · BMC medical genetics · 2009 · 8 claims · 6 setups
A novel 16 bp deletion variant (g.-6_+10del) was identified in the DJ-1 5'-UTR, spanning the transcription start site, 93 bp downstream of a known Sp1 site.
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Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data.
PMID 17910767 · PMC2148068 · BMC bioinformatics · 2007 · 8 claims · 4 setups
Different CNV analysis software packages produce highly variable numbers and types of candidate CNVs from the same data
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Has reproduction · 50
Genome-wide identification of Hfq-regulated small RNAs in the fire blight pathogen Erwinia amylovora discovered small RNAs with virulence regulatory function.
PMID 24885615 · PMC4070566 · BMC genomics · 2014 · 8 claims · 8 setups
A total of 40 candidate Hfq-dependent sRNAs were identified genome-wide in E. amylovora by combining RNA-seq with a Rho-independent terminator search.
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Has reproduction · 75
Endothelial Adgrl2 Expression and Alternative Splicing Controls the Cerebrovasculature.
PMID 41876233 · PMC13108381 · The Journal of neuroscience : the official journal of the Society for Neuroscience · 2026 · 8 claims · 5 setups
Endothelial cell-specific Adgrl2 deletion impairs cerebrovascular integrity (blood–brain barrier).
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A novel approach for determining cancer genomic breakpoints in the presence of normal DNA.
PMID 17440616 · PMC1847701 · PloS one · 2007 · 8 claims · 6 setups
PAMP enriches deletion-breakpoint-spanning DNA because shorter mutant amplicons are preferentially amplified over much longer wild-type sequences when using approximated flanking primer pairs.
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Longitudinal analysis of early stage sarcopenia in aging rhesus monkeys.
PMID 18983905 · PMC2693938 · Experimental gerontology · 2009 · 8 claims · 6 setups
mtDNA deletion mutations induce ETS enzyme abnormalities (COXneg/SDHhyp phenotypes) linked to intra-fiber atrophy and fiber loss
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The hemolytic and cytolytic activities of Serratia marcescens phospholipase A (PhlA) depend on lysophospholipid production by PhlA.
PMID 20003541 · PMC2800117 · BMC microbiology · 2009 · 8 claims · 8 setups
S. marcescens possesses a hemolytic factor independent of ShlA, revealed because an shlAB deletion mutant loses contact hemolysis but retains hemolysis on blood agar plates.
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Has reproduction · 75
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.
PMID 17033964 · PMC1698567 · American journal of human genetics · 2006 · 7 claims · 4 setups
Heterozygous de novo point mutations in HCCS (missense p.R217C and nonsense p.R197X) cause X-linked dominant MLS in females with normal karyotypes
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Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.
PMID 18302728 · PMC2291454 · BMC medical genetics · 2008 · 8 claims · 8 setups
Functional assays of TSC1–TSC2 complex activity can distinguish pathogenic TSC2 mutations from rare polymorphisms when multiple variants segregate in one family
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A pre-S gene chip to detect pre-S deletions in hepatitis B virus large surface antigen as a predictive marker for hepatoma risk in chronic hepatitis B virus carriers.
PMID 19751529 · PMC2755474 · Journal of biomedical science · 2009 · 8 claims · 5 setups
Pre-S1 and pre-S2 deletion mutants of the HBV LHBS gene are highly associated with HBV-related HCC
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Viral and host determinants of RNA virus vector replication and expression.
PMID 15734041 · PMC7115378 · Vaccine · 2005 · 7 claims · 4 setups
BMV RNA replication occurs in a virus-induced, membrane-bounded compartment rather than in the open cytoplasm.
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Transcriptional regulation of human eosinophil RNases by an evolutionary- conserved sequence motif in primate genome.
PMID 17927842 · PMC2174947 · BMC molecular biology · 2007 · 7 claims · 8 setups
A 34-nt sequence motif (-81 to -48) is present in all primate edn promoters and in macaque ecp promoter but is deleted in other primate ecp promoters
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Has reproduction · 55
Single cell analysis reveals the roles and regulatory mechanisms of type-I interferons in Parkinson's disease.
PMID 38566100 · PMC10985960 · Cell communication and signaling : CCS · 2024 · 8 claims · 8 setups
Microglia, endothelial cells, and pericytes exhibit the highest type I interferon (IFN-I) activity among PD midbrain cell types, with microglia showing markedly higher activity in PD.
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Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.
PMID 17052327 · PMC1626071 · BMC medical genetics · 2006 · 8 claims · 8 setups
RSTS is caused by chromosomal microdeletions and point mutations in one copy of CREBBP (16p13.3), consistent with haploinsufficiency of this dosage-sensitive gene
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arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays.
PMID 15910681 · PMC1173083 · BMC bioinformatics · 2005 · 8 claims · 4 setups
arrayCGHbase is a MIAME-compliant, web-based database and analysis platform that stores, analyzes, interprets, compares, and visualizes arrayCGH data in a uniform format.
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The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the HBG2 gene promoter.
PMID 19050890 · PMC2690858 · Annals of hematology · 2009 · 7 claims · 7 setups
HBG2:g.-109G>T is a novel promoter mutation causing a distinct ('Hellenic type') nd-HPFH
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Mitochondrial localization and function of a subset of 22q11 deletion syndrome candidate genes.
PMID 18775783 · PMC2729512 · Molecular and cellular neurosciences · 2008 · 8 claims · 8 setups
Six 22q11 genes (Mrpl40, Prodh, Slc25a1, Txnrd2, T10, Zdhhc8) encode proteins that localize to mitochondria, including neuronal/synaptic mitochondria.
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Genomes of Helicobacter pylori from native Peruvians suggest admixture of ancestral and modern lineages and reveal a western type cag-pathogenicity island.
PMID 16872520 · PMC1553449 · BMC genomics · 2006 · 8 claims · 7 setups
Native Peruvian H. pylori strains comprise two lineages: predominant hp-Europe and ~20% hsp-Amerind (Amerindian ancestry, closer to Alaska strains)
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Has reproduction · 68
LaSSO, a strategy for genome-wide mapping of intronic lariats and branch points using RNA-seq.
PMID 24709818 · PMC4079972 · Genome research · 2014 · 8 claims · 8 setups
LaSSO (Lariat Sequence Site Origin) identifies intronic lariat reads and pinpoints branch points genome-wide from RNA-seq data by considering every intronic base as a potential branch point and including all possible exon-skipping lariats.