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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Genome modelling and design across all domains of life with Evo 2.
PMID 41781614 · PMC13128491 · Nature · 2026 · 8 claims · 8 setups
Evo 2 accurately predicts functional impacts of genetic variation, from noncoding pathogenic mutations to clinically significant BRCA1 variants, without task-specific fine-tuning
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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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Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
PMID 19862842 · PMC2830005 · Human mutation · 2009 · 8 claims · 6 setups
Mutations in HGD, which encodes homogentisate dioxygenase, cause AKU by blocking conversion of homogentisic acid to maleylacetoacetic acid in the tyrosine catabolic pathway
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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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Gene prediction in eukaryotes with a generalized hidden Markov model that uses hints from external sources.
PMID 16469098 · PMC1409804 · BMC bioinformatics · 2006 · 7 claims · 3 setups
AUGUSTUS+ extends the AUGUSTUS GHMM by combining intrinsic sequence information with extrinsic hints via an extended emission alphabet, so the GHMM jointly models the DNA sequence, gene structure, and hint collection.
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The human L-threonine 3-dehydrogenase gene is an expressed pseudogene.
PMID 12361482 · PMC131051 · BMC genetics · 2002 · 8 claims · 7 setups
The human TDH gene is located at chromosome 8p23-22, spans 10 kb, and has 8 exons that would be expected to encode a 369-residue ORF.
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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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CONTRAST: a discriminative, phylogeny-free approach to multiple informant de novo gene prediction.
PMID 18096039 · PMC2246271 · Genome biology · 2007 · 8 claims · 5 setups
CONTRAST predicts exact coding region structures for 65% more human genes than the previous state-of-the-art de novo predictor (N-SCAN)
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Has reproduction · 83
A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm.
PMID 24193348 · PMC4060107 · European journal of human genetics : EJHG · 2014 · 6 claims · 2 setups
A novel heterozygous c.1165dupA mutation in exon 7 of TGFB2 (p.Ser389Lysfs*8) was identified in three members of one family with syndromic TAAD.
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Comparative genomics search for losses of long-established genes on the human lineage.
PMID 18085818 · PMC2134963 · PLoS computational biology · 2007 · 8 claims · 6 setups
A novel comparative genomics method (TransMap-based syntenic mapping of gene structures between human, mouse, and dog) can detect losses of well-established single-copy genes without relying on sequence homology to a parental gene, distinguishing them from typical duplication- or retrotransposition-derived pseudogenes.
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An integrated database-pipeline system for studying single nucleotide polymorphisms and diseases.
PMID 19091018 · PMC2638159 · BMC bioinformatics · 2008 · 6 claims · 5 setups
Existing SNP/disease databases are fragmented; no combined resource widely supports gene-, SNP-, and disease-related information together
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Temporal constraints on enhancer usage shape the regulation of limb gene transcription.
PMID 41526337 · PMC12795824 · Nature communications · 2026 · 8 claims · 6 setups
Putative enhancer repertoires at limb developmental gene loci shift over time, with distinct early-acting, common-acting, and late-acting enhancers.
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Comparison of characteristics and function of translation termination signals between and within prokaryotic and eukaryotic organisms.
PMID 16614446 · PMC1435984 · Nucleic acids research · 2006 · 8 claims · 5 setups
A core termination signal of 4 nt (stop codon plus the following nucleotide) is preferred across most prokaryotic and eukaryotic genomes
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Comparative analysis of cancer genes in the human and chimpanzee genomes.
PMID 16438707 · PMC1382208 · BMC genomics · 2006 · 7 claims · 6 setups
All 333 examined human cancer genes have intact, highly conserved orthologs in the chimpanzee genome (99.38% protein identity).
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Nucleosome deposition and DNA methylation at coding region boundaries.
PMID 19723310 · PMC2768978 · Genome biology · 2009 · 8 claims · 8 setups
Nucleosomes and DNA methylation form distinct peaks just downstream of the start codon and just upstream of the stop codon, marking both ends of protein coding units genome-wide.
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The UCSC Genome Browser Database: update 2006.
PMID 16381938 · PMC1347506 · Nucleic acids research · 2006 · 8 claims · 8 setups
The UCSC Genome Browser Database (GBD) provides integrated sequence and annotation data, with web tools (Genome Browser, Table Browser, Proteome Browser, Gene Sorter, BLAT, In Silico PCR) for visualizing and querying genomes of about a dozen vertebrate species and several model organisms.
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Has reproduction · 78
The cold-induced lipokine 12,13-diHOME promotes fatty acid transport into brown adipose tissue.
PMID 28346411 · PMC5699924 · Nature medicine · 2017 · 8 claims · 8 setups
12,13-diHOME is a cold-induced lipokine that stimulates BAT activity
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Systematic identification of pseudogenes through whole genome expression evidence profiling.
PMID 16945953 · PMC1636364 · Nucleic acids research · 2006 · 8 claims · 8 setups
Developed a novel bioinformatics method that identifies pseudogenes by profiling whole-genome transcript and protein expression evidence
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Has reproduction · 51
Population Genomic Analyses Suggest a Hybrid Origin, Cryptic Sexuality, and Decay of Genes Regulating Seed Development for the Putatively Strictly Asexual Kingdonia uniflora (Circaeasteraceae, Ranunculales).
PMID 36674965 · PMC9866071 · International journal of molecular sciences · 2023 · 8 claims · 8 setups
K. uniflora shows high allelic heterozygosity (negative F_IS) consistent with theoretical expectations under asexual evolution
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Comprehensive splice-site analysis using comparative genomics.
PMID 16914448 · PMC1557818 · Nucleic acids research · 2006 · 8 claims · 6 setups
Over half a million splice sites were collected from five species (H. sapiens, M. musculus, D. melanogaster, C. elegans, A. thaliana) and classified into four main subtypes: U2-type GT-AG and GC-AG, and U12-type GT-AG and AT-AC.