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 · 87
ddRAD-seq reveals the genetic structure and detects signals of selection in Italian brown trout.
PMID 35100964 · PMC8805291 · Genetics, selection, evolution : GSE · 2022 · 7 claims · 8 setups
Italian brown trout populations are genetically differentiated but show strong admixture introduced by stocking, especially with the Atlantic lineage.
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Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes.
PMID 18648522 · PMC2480479 · Molecular vision · 2008 · 8 claims · 4 setups
A rare CHX10 missense variant (c.728G>A, Gly243Asp) was identified in one PACG patient and absent in 215 controls, and is a possible disease-causing variant
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Has reproduction · 68
Mod(mdg4) variants repress telomeric retrotransposon HeT-A by blocking subtelomeric enhancers.
PMID 36373634 · PMC9723646 · Nucleic acids research · 2022 · 8 claims · 8 setups
Specific splice variants of Mod(mdg4) repress HeT-A by blocking subtelomeric enhancers in ovarian somatic cells (OSCs)
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Genome assembly comparison identifies structural variants in the human genome.
PMID 17115057 · PMC2674632 · Nature genetics · 2006 · 7 claims · 7 setups
Genome assembly comparison is a robust approach for identifying all classes of genetic variation, with no lower size limit.
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Genome sequence, comparative analysis, and population genetics of the domestic horse.
PMID 19892987 · PMC3785132 · Science (New York, N.Y.) · 2009 · 8 claims · 7 setups
Produced a high-quality draft genome assembly of the domestic horse (EquCab2.0)
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Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies.
PMID 16254605 · PMC1270012 · PLoS genetics · 2005 · 8 claims · 6 setups
Comparative net alignment of human and chimpanzee genome assemblies identifies 1,576 putative inverted regions covering more than 154 Mb of DNA
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Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients.
PMID 15833136 · PMC1097718 · BMC cancer · 2005 · 8 claims · 6 setups
A 250 Kbp deletion spanning intron 5 to beyond exon 15 of APC was identified in one FAP patient using MLPA, karyotyping, and FISH.
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The specificity of the FOXL2 c.402C>G somatic mutation: a survey of solid tumors.
PMID 19956657 · PMC2777318 · PloS one · 2009 · 6 claims · 4 setups
The FOXL2 c.402C>G mutation is not commonly found in a wide variety of other cancers and is likely pathognomonic for A-GCTs and closely related tumors.
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Has reproduction · 71
Prospects of telomere-to-telomere assembly in barley: Analysis of sequence gaps in the MorexV3 reference genome.
PMID 35338551 · PMC9241371 · Plant biotechnology journal · 2022 · 7 claims · 8 setups
Almost all centromeric sequences and 45S ribosomal DNA repeat arrays are absent from the MorexV3 pseudomolecules
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APC mutation analysis by chemical cleavage of mismatch and a protein truncation assay in familial adenomatous polyposis.
PMID 7524601 · PMC2033526 · British journal of cancer · 1994 · 7 claims · 8 setups
Chemical cleavage of mismatch (HOT) analysis combined with sequencing identified inactivating constitutional APC mutations in 9 of 10 (90%) linkage-confirmed FAP patients, far exceeding the ~30% detection rate reported in the literature.
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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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The gentle art of gene arrangement: the meaning of gene clusters.
PMID 11897017 · PMC139018 · Genome biology · 2002 · 8 claims · 7 setups
Gene order in eukaryotic genomes is likely optimized by natural selection rather than arising purely by chance reshuffling.
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The diploid genome sequence of an individual human.
PMID 17803354 · PMC1964779 · PLoS biology · 2007 · 7 claims · 6 setups
Generated an independently assembled diploid human genome sequence (HuRef) from both chromosome sets of a single individual using whole-genome shotgun Sanger sequencing
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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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New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.
PMID 19686598 · PMC2736583 · BMC medical genetics · 2009 · 8 claims · 7 setups
DGGE screening of the non-duplicated PKD1 region detects likely pathogenic mutations in Czech ADPKD patients
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Has reproduction · 85
Ensembl 2013.
PMID 23203987 · PMC3531136 · Nucleic acids research · 2013 · 8 claims · 8 setups
Ensembl (http://www.ensembl.org) provides genome information for sequenced chordate genomes, currently supporting 70 species with a focus on human, mouse, zebrafish and rat.
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In silico analysis of missense substitutions using sequence-alignment based methods.
PMID 18951440 · PMC3431198 · Human mutation · 2008 · 8 claims · 7 setups
Carefully validated PMSA-based computational algorithms can achieve predictive values of ~75-95% for classifying missense substitutions as pathogenic or neutral.