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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Manual annotation and analysis of the defensin gene cluster in the C57BL/6J mouse reference genome.
PMID 20003482 · PMC2807441 · BMC genomics · 2009 · 8 claims · 6 setups
Manual annotation of the mouse Chromosome 8 defensin region identifies 98 gene loci: 54 in the alpha-defensin cluster and 44 in the beta-defensin cluster
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The homeobox gene CDX2 in colorectal carcinoma: a genetic analysis.
PMID 11161380 · PMC2363702 · British journal of cancer · 2001 · 7 claims · 7 setups
No CDX2 mutations predisposing to sporadic colorectal cancer were identified
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The DNA sequence and analysis of human chromosome 13.
PMID 15057823 · PMC2665288 · Nature · 2004 · 8 claims · 8 setups
95.5 Mb of finished sequence from chromosome 13 was completed, containing 633 genes and 296 pseudogenes.
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Genetic and biochemical studies in Argentinean patients with variegate porphyria.
PMID 18570668 · PMC2467414 · BMC medical genetics · 2008 · 8 claims · 6 setups
All 18 studied VP patients harbored PPOX gene mutations in heterozygous state
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QuickSNP: an automated web server for selection of tagSNPs.
PMID 17517769 · PMC1933212 · Nucleic acids research · 2007 · 7 claims · 3 setups
QuickSNP is a freely available automated web server for selecting tagSNPs from a chromosomal region, genes within a region, or a specified gene list, with a gene-centric selection option
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DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
PMID 16625196 · PMC2610434 · Nature · 2006 · 8 claims · 7 setups
A finished sequence of human chromosome 17 (78,839,971 bases, ~2.8% of the euchromatic genome) was generated.
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A dispermic chimera with mixed field blood group B and mosaic 46,XY/47,XYY karyotype.
PMID 17596670 · PMC2693654 · Journal of Korean medical science · 2007 · 7 claims · 7 setups
The propositus shows mixed-field agglutination with anti-B that mimics the B3 ABO subtype but is not caused by a B3 allele.
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Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy.
PMID 17428346 · PMC1855920 · BMC medical genetics · 2007 · 7 claims · 5 setups
Two novel missense mutations in the myostatin gene (p.95D>H and p.156L>I) were identified in Japanese DMD patients
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Genomic analysis of the TRIM family reveals two groups of genes with distinct evolutionary properties.
PMID 18673550 · PMC2533329 · BMC evolutionary biology · 2008 · 8 claims · 6 setups
The human TRIM family is split into two groups (group 1 and group 2) that differ in domain structure, genomic organization, and evolutionary properties.
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Multiplexed genetic analysis using an expanded genetic alphabet.
PMID 15319316 · PMC1592527 · Clinical chemistry · 2004 · 7 claims · 6 setups
MultiCode PLx is a three-step platform (PCR, target-specific extension, liquid chip decoding) performed in a single reaction vessel and completed in ~3 h
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Polymorphix: a sequence polymorphism database.
PMID 15608242 · PMC540030 · Nucleic acids research · 2005 · 8 claims · 5 setups
Polymorphix is an ACNUC-structured database that organizes EMBL/GenBank sequences into within-species homologous sequence families using similarity and bibliographic criteria, with alignments, outgroups and phylogenetic trees provided.
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ABS: a database of Annotated regulatory Binding Sites from orthologous promoters.
PMID 16381947 · PMC1347478 · Nucleic acids research · 2006 · 7 claims · 6 setups
ABS is a public database of experimentally identified TF binding sites conserved in orthologous vertebrate gene promoters, manually curated from the literature.
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COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer.
PMID 19906727 · PMC2808858 · Nucleic acids research · 2010 · 8 claims · 6 setups
COSMIC is the largest public resource for information on somatically acquired mutations in human cancer, freely available without restriction
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The gene guessing game.
PMID 11025532 · PMC2448377 · Yeast (Chichester, England) · 2000 · 8 claims · 6 setups
Published methods for estimating human gene number diverge widely, from ~30,000 to over 140,000 genes.
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Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence.
PMID 15588320 · PMC544879 · BMC genomics · 2004 · 8 claims · 8 setups
The hg16 automatic assembly of the 8p23.1 DEF locus contains misassemblies caused by segmental duplications and interindividual/intraindividual genetic variation
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Exogean: a framework for annotating protein-coding genes in eukaryotic genomic DNA.
PMID 16925841 · PMC1810556 · Genome biology · 2006 · 8 claims · 5 setups
Exogean is a framework using directed acyclic coloured multigraphs (DACMs) to represent biological objects (mRNA, ESTs, protein alignments, exons) and iteratively combine them into complex protein-coding transcript models.
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High-throughput discovery of rare human nucleotide polymorphisms by Ecotilling.
PMID 16893952 · PMC1540726 · Nucleic acids research · 2006 · 7 claims · 6 setups
Ecotilling can be adapted to accurately discover and genotype human SNPs, with error rates low relative to resequencing
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Functional analysis of novel SNPs and mutations in human and mouse genomes.
PMID 19091009 · PMC2638150 · BMC bioinformatics · 2008 · 8 claims · 7 setups
FANS streamlines functional analysis of novel SNPs and mutations into a simplified, few-click, four-step procedure.
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Highly individual methylation patterns of alternative glucocorticoid receptor promoters suggest individualized epigenetic regulatory mechanisms.
PMID 19004867 · PMC2602793 · Nucleic acids research · 2008 · 7 claims · 4 setups
Methylation patterns of the five GR promoters activated in PBMCs are highly variable between individuals.
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An analysis of human microRNA and disease associations.
PMID 18923704 · PMC2559869 · PloS one · 2008 · 8 claims · 8 setups
MicroRNAs tend to show similar dysfunctional evidence (both up- or both down-regulated) for diseases within the same disease cluster, and different dysfunctional evidence between different disease clusters.