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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Sequence determinants of human microsatellite variability.
PMID 20015383 · PMC2806349 · BMC genomics · 2009 · 6 claims · 4 setups
Mean and maximum number of repeats across individuals are positively correlated with heterozygosity
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PrimerStation: a highly specific multiplex genomic PCR primer design server for the human genome.
PMID 16845094 · PMC1538814 · Nucleic acids research · 2006 · 7 claims · 2 setups
Selecting primers using the stringent hybridization ratio (requiring an 'executable temperature' where target hybridization ratio >0.99 and off-target ratio <0.05) yields more specific genomic primers than the conventional melting-temperature-based approach, which only guarantees >0.5 vs <0.5
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Leveraging human genomic information to identify nonhuman primate sequences for expression array development.
PMID 16288651 · PMC1314899 · BMC genomics · 2005 · 8 claims · 6 setups
Human genomic DNA sequence can be leveraged to obtain 3' end sequence of NHP orthologs, which can then be used to generate NHP oligonucleotide microarrays
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Non-EST based prediction of exon skipping and intron retention events using Pfam information.
PMID 16204458 · PMC1243800 · Nucleic acids research · 2005 · 7 claims · 5 setups
A novel ab initio method predicts exon skipping and intron retention events using only Pfam domain annotation, via a Viterbi-like dynamic programming algorithm applied to the Pfam alignment.
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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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In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites.
PMID 17726045 · PMC2094079 · Nucleic acids research · 2007 · 8 claims · 6 setups
Two exonic mutations, PINK1 E417G and PARK7 E64D, disrupt binding to U1 snRNA and cause skipping of the mutation-harboring exon
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Non-EST-based prediction of novel alternatively spliced cassette exons with cell signaling function in Caenorhabditis elegans and human.
PMID 17452356 · PMC1904267 · Nucleic acids research · 2007 · 8 claims · 7 setups
PASE (Prediction of Alternative Signaling Exons) is a computational algorithm combining Markov splice-site models, a Bayesian classifier, species conservation, and Scansite motif scoring to identify novel alternative cassette exons involved in cell signaling.
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Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.
PMID 18382660 · PMC2270336 · PloS one · 2008 · 8 claims · 6 setups
16 of 30 patients with suspected MODY (53%) carry GCK mutations, confirming GCK MODY diagnosis
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hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
PMID 17207965 · PMC4647941 · Genomics · 2007 · 8 claims · 7 setups
hORFeome v3.1 is a resource of 12,212 cloned human ORFs representing 10,214 genes, a 51% expansion over hORFeome v1.1
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Pairagon+N-SCAN_EST: a model-based gene annotation pipeline.
PMID 16925839 · PMC1810554 · Genome biology · 2006 · 7 claims · 5 setups
Pairagon+N-SCAN_EST, using only native alignments, was as accurate as ENSEMBL and ExoGean in the EGASP mRNA/EST evidence assessment
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GENCODE: producing a reference annotation for ENCODE.
PMID 16925838 · PMC1810553 · Genome biology · 2006 · 8 claims · 8 setups
GENCODE annotation combines initial manual annotation by HAVANA, experimental validation, and refinement based on results to identify protein-coding genes in ENCODE regions
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Large-scale analysis of Macaca fascicularis transcripts and inference of genetic divergence between M. fascicularis and M. mulatta.
PMID 18294402 · PMC2287170 · BMC genomics · 2008 · 8 claims · 6 setups
Constructed full-length-enriched cDNA libraries and determined 85,721 EST sequences and 9407 full-insert sequences from cynomolgus macaque brain (7 regions), testis, and liver
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Functional dissection of siRNA sequence by systematic DNA substitution: modified siRNA with a DNA seed arm is a powerful tool for mammalian gene silencing with significantly reduced off-target effect.
PMID 18267968 · PMC2367719 · Nucleic acids research · 2008 · 6 claims · 8 setups
The seed arm (guide strand positions 2-8), its complementary passenger-strand sequence, the 5' end of the guide strand, and the 3' overhang of the passenger strand can be simultaneously replaced with DNA without substantial loss of gene-silencing activity.
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Application of functional genomics to the chimeric mouse model of HCV infection: optimization of microarray protocols and genomics analysis.
PMID 16725047 · PMC1482685 · Virology journal · 2006 · 6 claims · 4 setups
Mouse liver mRNA cross-hybridizes to corresponding human gene probes on the Agilent Human 22K oligonucleotide microarray
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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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Discovery of novel human transcript variants by analysis of intronic single-block EST with polyadenylation site.
PMID 19906316 · PMC2784480 · BMC genomics · 2009 · 8 claims · 7 setups
Intronic single-block ESTs with poly(A/T) tails reveal previously unidentified novel transcript variants missed by existing databases.
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Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence.
PMID 12702206 · PMC154576 · Genome biology · 2003 · 8 claims · 6 setups
Segmental duplications comprise 3.53% (107.4/3,043.1 Mb) of the June 2002 human genome assembly
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Expansion of the Bactericidal/Permeability Increasing-like (BPI-like) protein locus in cattle.
PMID 17362520 · PMC1839098 · BMC genomics · 2007 · 8 claims · 8 setups
The bovine BPI-like locus spans 470 kbp and contains 14 contiguous genes (13 intact + 1 pseudogene); 9 are orthologous to human/mouse BPI-like genes and 4 (named BSP30A, BSP30B, BSP30C, BSP30D) arose through cattle-specific duplication of the PSP gene
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Genome-scale approaches to the epigenetics of common human disease.
PMID 19844740 · PMC3107986 · Virchows Archiv : an international journal of pathology · 2010 · 7 claims · 8 setups
DNA methylation is a stable, mitotically heritable epigenetic mark faithfully propagated by DNMT1 acting on hemimethylated DNA during replication
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HTSstation: a web application and open-access libraries for high-throughput sequencing data analysis.
PMID 24475057 · PMC3903476 · PloS one · 2014 · 8 claims · 5 setups
HTSstation is a web application suite coupling simple web forms to modular analysis pipelines for ChIP-seq, RNA-seq, 4C-seq and re-sequencing HTS applications, accessible at http://htsstation.epfl.ch.