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 · 67
Essential Genes of Vibrio anguillarum and Other Vibrio spp. Guide the Development of New Drugs and Vaccines.
PMID 34745063 · PMC8564382 · Frontiers in microbiology · 2021 · 7 claims · 7 setups
Tn-seq using the TnSC189 mariner transposon identified 329 essential genes in V. anguillarum NB10Sm from a library of 52,662 insertion mutants.
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Molecular genetics and structural genomics of the human protein kinase C gene module.
PMID 11897026 · PMC88812 · Genome biology · 2002 · 8 claims · 4 setups
The nine human PKC genes are dispersed throughout the genome, with five isotypes (α, β, δ, ζ, ι) previously incorrectly assigned to chromosomes in the literature.
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Hominoid chromosomal rearrangements on 17q map to complex regions of segmental duplication.
PMID 18257913 · PMC2374708 · Genome biology · 2008 · 8 claims · 7 setups
The macaque marker order on chromosome 17 represents the ancestral hominoid/mammalian organization
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The fate of the duplicated androgen receptor in fishes: a late neofunctionalization event?
PMID 19094205 · PMC2637867 · BMC evolutionary biology · 2008 · 8 claims · 4 setups
AR was duplicated into two paralogs, AR-A and AR-B, during a teleost-specific whole genome duplication (WGD), after the split of Acipenseriformes but before the divergence of Osteoglossiformes.
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Whole genome comparative studies between chicken and turkey and their implications for avian genome evolution.
PMID 18410676 · PMC2375447 · BMC genomics · 2008 · 8 claims · 7 setups
Chicken and turkey genomes differ by only two inter-chromosomal rearrangements (GGA2 orthologous to MGA3+6; GGA4 orthologous to MGA4+9), both involving centromeres.
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Large-scale copy number variants (CNVs): distribution in normal subjects and FISH/real-time qPCR analysis.
PMID 17565693 · PMC1920519 · BMC genomics · 2007 · 8 claims · 4 setups
42 different CNVs were detected in 27 phenotypically normal individuals using 1 Mb resolution BAC array-CGH
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A method for accurate detection of genomic microdeletions using real-time quantitative PCR.
PMID 16351727 · PMC1327677 · BMC genomics · 2005 · 8 claims · 5 setups
A qPCR method using unique-sequence primers can reproducibly detect chromosomal microdeletions and microduplications
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QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data.
PMID 17341461 · PMC1874617 · Nucleic acids research · 2007 · 8 claims · 7 setups
QuantiSNP (OB-HMM) provides probabilistic quantification of copy number states and significantly improves accuracy of segmental aneuploidy identification and breakpoint mapping relative to existing tools (BeadStudio/Illumina)
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Rapid identification of PAX2/5/8 direct downstream targets in the otic vesicle by combinatorial use of bioinformatics tools.
PMID 18828907 · PMC2760872 · Genome biology · 2008 · 8 claims · 8 setups
A combinatorial bioinformatics pipeline (evolutionary double filtering comparative genomics, GXD/ZFIN database queries, MEDLINE text mining) can rapidly and specifically identify PAX2/5/8 direct downstream targets in the otic vesicle
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Bone marrow ectopic expression of a non-coding RNA in childhood T-cell acute lymphoblastic leukemia with a novel t(2;11)(q11.2;p15.1) translocation.
PMID 18947387 · PMC2579299 · Molecular cancer · 2008 · 8 claims · 8 setups
A novel t(2;11)(q11.2;p15.1) translocation was identified as the sole cytogenetic abnormality in a childhood T-ALL case
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Has reproduction · 81
Mitochondrial volume fraction and translation duration impact mitochondrial mRNA localization and protein synthesis.
PMID 32762840 · PMC7413667 · eLife · 2020 · 8 claims · 8 setups
mRNA localization to mitochondria is condition-dependent: ATP3 mRNA switches from low (diffuse) association in fermentative conditions to strong mitochondrial association in respiratory conditions, while TIM50 is constitutively localized and TOM22 is diffuse.
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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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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.
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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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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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PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.
PMID 16430766 · PMC1434729 · BMC medical genetics · 2006 · 7 claims · 8 setups
Linkage analysis can pre-select which gene (PKD1 or PKD2) to screen for mutations in ADPKD families with sufficient samples
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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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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