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 SNP-centric database for the investigation of the human genome.
PMID 15046636 · PMC395999 · BMC bioinformatics · 2004 · 8 claims · 3 setups
SNPper is a web-based, integrated SNP database combining dbSNP, the Human Genome sequence (Goldenpath), LocusLink, GeneOntology, and SWISS-PROT data with querying, visualization, and export tools.
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Intronic alternative splicing regulators identified by comparative genomics in nematodes.
PMID 16839192 · PMC1500816 · PLoS computational biology · 2006 · 8 claims · 6 setups
Conserved intronic elements flanking alternative exons occur more often than expected from total intron sequence, consistent with selective pressure for splicing regulation
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Comparative genomics and experimental promoter analysis reveal functional liver-specific elements in mammalian hepatic lipase genes.
PMID 17428321 · PMC1853088 · BMC genomics · 2007 · 8 claims · 7 setups
Cis-regulatory elements responsible for liver-specific HL expression are conserved among mammalian HL genes
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In silico comparative genomic analysis of GABAA receptor transcriptional regulation.
PMID 17603907 · PMC1934366 · BMC genomics · 2007 · 8 claims · 8 setups
Previously unreported putative promoters were identified for the β2, γ1, γ3, ε, θ and π GABA A receptor subunit genes
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The whole alignment and nothing but the alignment: the problem of spurious alignment flanks.
PMID 18796526 · PMC2566872 · Nucleic acids research · 2008 · 8 claims · 4 setups
Some common scoring schemes tend to overextend alignments, generating spurious alignment flanks up to hundreds of bp/amino acids in length
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DG-CST (Disease Gene Conserved Sequence Tags), a database of human-mouse conserved elements associated to disease genes.
PMID 15608249 · PMC539965 · Nucleic acids research · 2005 · 5 claims · 8 setups
Comparative human-mouse genome analysis identifies conserved sequence tags (CSTs, >=70% identity over >=100bp) that frequently correspond to non-coding elements with putative regulatory or structural roles
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GenomeTrafac: a whole genome resource for the detection of transcription factor binding site clusters associated with conventional and microRNA encoding genes conserved between mouse and human gene orthologs.
PMID 17178752 · PMC1781107 · Nucleic acids research · 2007 · 8 claims · 5 setups
GenomeTrafac is a web-accessible database enabling genome-wide detection of conserved cis-element clusters in human-mouse gene orthologs, covering both conventional and microRNA genes
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Integrative functional genomics.
PMID 15239826 · PMC463286 · Genome biology · 2004 · 8 claims · 8 setups
Ultra-conserved noncoding elements exist across human, mouse and rat genomes at very high sequence identity, often far from genes
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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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How accurately is ncRNA aligned within whole-genome multiple alignments?
PMID 17963514 · PMC2206062 · BMC bioinformatics · 2007 · 7 claims · 4 setups
MULTIZ does a fairly accurate job of aligning ncRNA regions across 17 vertebrate genomes, but better alignments exist in some regions.
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Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism.
PMID 19087301 · PMC2635385 · BMC neurology · 2008 · 8 claims · 8 setups
A parkin exon 4 deletion segregates with disease in a three-generation family (Family F), homozygous in both affected individuals
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Sequence context affects the rate of short insertions and deletions in flies and primates.
PMID 18291026 · PMC2374710 · Genome biology · 2008 · 8 claims · 6 setups
The rate of insertion or deletion of specific lengths can vary by more than 100-fold depending on the surrounding sequence context
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Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library.
PMID 20037582 · PMC2951730 · Nature biotechnology · 2010 · 8 claims · 7 setups
A standardized, non-redundant library of 1,889 breakpoint-resolved SVs was assembled from eight published surveys
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Developments in CORG: a gene-centric comparative genomics resource.
PMID 17135197 · PMC1751536 · Nucleic acids research · 2007 · 7 claims · 4 setups
CORG provides pairwise and multiple sequence alignments of upstream promoter regions and whole gene loci across 10 vertebrate species.
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MuPlex: multi-objective multiplex PCR assay design.
PMID 15980531 · PMC1160138 · Nucleic acids research · 2005 · 8 claims · 3 setups
MuPlex is a web-enabled system that designs multiplex PCR assays by selecting primer pairs for SNPs and partitioning them into multiplex-compatible tube sets.
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PolyA_DB 2: mRNA polyadenylation sites in vertebrate genes.
PMID 17202160 · PMC1899096 · Nucleic acids research · 2007 · 7 claims · 5 setups
PolyA_DB 2 catalogs poly(A) sites for genes in human, mouse, rat, chicken and zebrafish, identified by aligning cDNA/ESTs with genome sequences
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Widespread ultraconservation divergence in primates.
PMID 18492662 · PMC2464743 · Molecular biology and evolution · 2008 · 8 claims · 4 setups
The number of UCEs has decreased throughout primate evolution, from ~1,000 in ancestral primates to 635 in modern humans.
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Rapid detection and curation of conserved DNA via enhanced-BLAT and EvoPrinterHD analysis.
PMID 18307801 · PMC2268679 · BMC genomics · 2008 · 8 claims · 8 setups
eBLAT detects up to 75% more conserved bases than original BLAT alignments, with the largest gains between evolutionarily distant orthologs
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Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.
PMID 18948357 · PMC3044481 · Journal of medical genetics · 2009 · 8 claims · 6 setups
TGM1 germline mutations were identified in 55% (57/104) of patients with ARCI
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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