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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A compatible exon-exon junction database for the identification of exon skipping events using tandem mass spectrum data.
PMID 19087293 · PMC2636810 · BMC bioinformatics · 2008 · 6 claims · 6 setups
A theoretical exon-exon junction protein database accounting for all in-phase (frame-preserving) exon combinations can be built from the Ensembl Core Database using Perl/Bioperl/MySQL/Ensembl API.
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Computer identification of snoRNA genes using a Mammalian Orthologous Intron Database.
PMID 16093549 · PMC1184218 · Nucleic acids research · 2005 · 8 claims · 5 setups
Created the Mammalian Orthologous Intron Database (MOID) containing orthologous introns of human, mouse and rat identified via conserved reading-frame position
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The truth about mouse, human, worms and yeast.
PMID 15601543 · PMC3525071 · Human genomics · 2004 · 8 claims · 8 setups
Comparing genomes in pairs or larger sets (mouse-human, C. elegans-C. briggsae, multiple Saccharomyces, human-pufferfish, etc.) reveals unsuspected genes and helps eliminate false-positive gene predictions
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Anopheles gambiae genome reannotation through synthesis of ab initio and comparative gene prediction algorithms.
PMID 16569258 · PMC1557760 · Genome biology · 2006 · 8 claims · 7 setups
An exon-gene-union (EGU) algorithm followed by an open-reading-frame-selection algorithm can synthesize ab initio (GENSCAN, GeneMark, SNAP) and comparative (Ensembl/Genewise) predictions into a single, more complete CDS set
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A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.
PMID 12483017 · PMC3054970 · Journal of Korean medical science · 2002 · 7 claims · 5 setups
A missense mutation (Arg1448Cys, R1448C) in SCN4A causes paramyotonia congenita in this Korean family
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saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval.
PMID 41709279 · PMC13019952 · Genome biology · 2026 · 8 claims · 5 setups
Replacing the library-size offset with the log of the total gene count in NB-based bulk RNA-seq models (edgeR/DESeq2) lets the mean-model parameters be interpreted as transcript/exon usage, unlocking these tools for differential usage and aberrant splicing without DEXSeq-style subject-specific blocking covariates.
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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 deletion of Adgrl2 impairs cerebrovascular integrity in mice
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Continued colonization of the human genome by mitochondrial DNA.
PMID 15361937 · PMC515365 · PLoS biology · 2004 · 7 claims · 6 setups
NUMT insertion into nuclear chromosomes is an ongoing process shaped by double-strand-break repair (as shown in yeast) and continuing in humans.
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Speeding disease gene discovery by sequence based candidate prioritization.
PMID 15766383 · PMC1274252 · BMC bioinformatics · 2005 · 7 claims · 8 setups
Disease genes (OMIM) differ significantly from non-disease genes in sequence-based features including gene/cDNA/protein size, exon number, homolog conservation, secretion signal, 3' UTR length, CpG islands, and distance to nearest gene.
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Vertebrate gene finding from multiple-species alignments using a two-level strategy.
PMID 16925840 · PMC1810555 · Genome biology · 2006 · 8 claims · 5 setups
DOGFISH cleanly separates a multi-species alignment classifier (RVM cascade) from an HMM-based structure predictor, avoiding tight coupling of alignment complexity with HMM formalism
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Molecular evolution of Cide family proteins: novel domain formation in early vertebrates and the subsequent divergence.
PMID 18500987 · PMC2426694 · BMC evolutionary biology · 2008 · 8 claims · 5 setups
Sequences homologous to the CIDE-N domain/NCD show a wide phylogenetic distribution, from hydra and sea anemone to mammals, while true Cide proteins are restricted to vertebrates.
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MiR-21-5p Protects Embryonic Growth and Heart Function During Developmental Hypoxia by Dampening HIF Responses and Altering Gene Expression.
PMID 42138560 · PMC13178401 · Comprehensive Physiology · 2026 · 8 claims · 7 setups
Hypoxia induces widespread transcriptomic remodeling in neonatal rat cardiomyocytes (385 DEGs vs normoxia)
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FGF: a web tool for Fishing Gene Family in a whole genome database.
PMID 17584790 · PMC1933194 · Nucleic acids research · 2007 · 6 claims · 3 setups
FGF efficiently searches and identifies gene families in whole-genome databases and outputs visual phylogenetic trees annotated with gene structure, chromosome position, duplication fate, and selective pressure (Ka/Ks)
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Has reproduction · 77
Comparison of RNA-Seq by poly (A) capture, ribosomal RNA depletion, and DNA microarray for expression profiling.
PMID 24888378 · PMC4070569 · BMC genomics · 2014 · 8 claims · 8 setups
Ribo-Zero-Seq removes rRNA with efficiency comparable to poly(A)-based mRNA-Seq in both FF and FFPE RNA, whereas DSN-Seq leaves significantly more rRNA and shows greater variation.
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Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2.
PMID 10188893 · PMC2362698 · British journal of cancer · 1999 · 7 claims · 7 setups
Presence of at least one ovarian cancer case in a small family strongly predicts finding a BRCA1 or BRCA2 mutation.
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Genome informatics: taming the avalanche of genomic data.
PMID 15642109 · PMC549058 · Genome biology · 2005 · 8 claims · 7 setups
Ultraconserved regions (>100 bp, 100% conserved among mammals) exist in the genome and their function remains unknown
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Has reproduction · 69
A comparison across non-model animals suggests an optimal sequencing depth for de novo transcriptome assembly.
PMID 23496952 · PMC3655071 · BMC genomics · 2013 · 8 claims · 8 setups
Representative de novo transcriptome assemblies are generated with as few as ~20 million reads for single-tissue samples and ~30 million reads for whole animals at the mRNA-coverage level.
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A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.
PMID 15953877 · PMC2782211 · Journal of Korean medical science · 2005 · 7 claims · 8 setups
The patient is a compound heterozygote for two SLC37A4 mutations: c.1042_1043delCT (L348fs) and c.443C>T (A148V)
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Recurring genomic breaks in independent lineages support genomic fragility.
PMID 17090315 · PMC1636669 · BMC evolutionary biology · 2006 · 6 claims · 6 setups
The propensity of a chromosomal region to break is significantly correlated among independent lineages, even after accounting for covariates like region length and functional class.
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Has reproduction · 61
TEMP: a computational method for analyzing transposable element polymorphism in populations.
PMID 24753423 · PMC4066757 · Nucleic acids research · 2014 · 8 claims · 8 setups
TEMP combines pair-end (discordant) read and split (soft-clipped) read information to identify both presence and absence of TE insertions in genomic DNA from heterogeneous/pooled samples.