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 genomic pathway approach to a complex disease: axon guidance and Parkinson disease.
PMID 17571925 · PMC1904362 · PLoS genetics · 2007 · 8 claims · 5 setups
A genomic pathway approach using axon-guidance pathway SNPs strongly predicts PD susceptibility, survival free of PD, and age at onset of PD
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Comparative sequence analysis of leucine-rich repeats (LRRs) within vertebrate toll-like receptors.
PMID 17517123 · PMC1899181 · BMC genomics · 2007 · 8 claims · 4 setups
A new method combining known LRR structures, multiple sequence alignment, and secondary structure prediction identifies and aligns LRRs in TLRs more accurately than PFAM/InterPro/SMART
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MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.
PMID 17480217 · PMC1868705 · BMC medical genetics · 2007 · 8 claims · 7 setups
The MRX87 disease locus maps to the Xp22-p21 interval, a known hot spot region for mental handicap
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g:Profiler--a web-based toolset for functional profiling of gene lists from large-scale experiments.
PMID 17478515 · PMC1933153 · Nucleic acids research · 2007 · 8 claims · 5 setups
g:Profiler integrates four modules (g:Profiler core, g:Convert, g:Orth, g:Sorter) into a single cross-linked web tool for gene list analysis
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Gene-resolution analysis of DNA copy number variation using oligonucleotide expression microarrays.
PMID 17470268 · PMC1868757 · BMC genomics · 2007 · 8 claims · 7 setups
graCNV uses re-annotated Affymetrix expression microarray probe sets and the WPP algorithm to measure DNA copy number variation at a median resolution of ~17,500 bp without genomic complexity reduction.
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Identification and characterization of insect-specific proteins by genome data analysis.
PMID 17407609 · PMC1852559 · BMC genomics · 2007 · 8 claims · 7 setups
Comparative genome analysis across five holometabolous insects and three non-insect eukaryotes (opisthokonts) identifies 154 insect-specific orthologous groups (refined to 51 proteins) and 466 eukaryote/opisthokont-core orthologous groups
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Comparative proteomic analysis of cell lines and scrapings of the human intestinal epithelium.
PMID 17407598 · PMC1852558 · BMC genomics · 2007 · 8 claims · 7 setups
Global protein expression profiles of cultured intestinal epithelial cell lines differ from those of intestinal epithelial scrapings in vivo
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Alternative splicing and bioinformatic analysis of human U12-type introns.
PMID 17332017 · PMC1874599 · Nucleic acids research · 2007 · 8 claims · 6 setups
The long, evolutionarily conserved polypyrimidine (Py) tract of the JNK2 U2-U12 hybrid intron provides the signal for default inclusion of the downstream alternative exon 6b in non-neuronal cells
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A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita.
PMID 17308433 · PMC3479083 · Hormone research · 2007 · 7 claims · 6 setups
A novel C794G transversion causing missense mutation T265R in DAX1 (NR0B1) is responsible for X-linked adrenal hypoplasia congenita in this kindred
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Expression and mutation analysis of the discoidin domain receptors 1 and 2 in non-small cell lung carcinoma.
PMID 17299390 · PMC2360060 · British journal of cancer · 2007 · 8 claims · 6 setups
DDR1 is significantly upregulated in NSCLC tumour tissue compared with matched normal lung tissue
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Long-term trends in evolution of indels in protein sequences.
PMID 17298668 · PMC1805498 · BMC evolutionary biology · 2007 · 8 claims · 5 setups
More than one third of protein domains show a statistically significant tendency to increase or decrease in size over evolutionary distance.
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A distinct epigenetic signature at targets of a leukemia protein.
PMID 17266773 · PMC1796549 · BMC genomics · 2007 · 7 claims · 7 setups
Combining gene expression microarray analysis with bioinformatic search for AML1-consensus sequences identifies direct AML1 targets that expression analysis alone cannot resolve
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Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.
PMID 17223989 · PMC1859977 · Clinical endocrinology · 2007 · 7 claims · 5 setups
MC2R mutations can be found in children diagnosed with salt-losing forms of adrenal hypoplasia
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A procedure for the detection of linkage with high density SNP arrays in a large pedigree with colorectal cancer.
PMID 17222328 · PMC1784097 · BMC cancer · 2007 · 7 claims · 8 setups
A workflow combining Alohomora, Mega2, MENDEL, SNPLINK and SimWalk2 enables linkage analysis with high-density SNP arrays in large pedigrees (>35-40 bits) that exceed the capacity of single existing programs
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Comparative genomic analysis of prion genes.
PMID 17199895 · PMC1781936 · BMC genomics · 2007 · 8 claims · 8 setups
SPRN and PRNP homologues are present in all vertebrates, whereas PRND is restricted to tetrapods and PRNT is restricted to primates
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Comparative genomic study reveals a transition from TA richness in invertebrates to GC richness in vertebrates at CpG flanking sites: an indication for context-dependent mutagenicity of methylated CpG sites.
PMID 19329065 · PMC5054122 · Genomics, proteomics & bioinformatics · 2008 · 8 claims · 8 setups
Nucleotide preference at CpG flanking sites transitions from 5' T (invertebrates) to 5' A (vertebrates) at the invertebrate-vertebrate boundary
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Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.
PMID 19112530 · PMC2610289 · Molecular vision · 2008 · 8 claims · 5 setups
Two novel heterozygous OPA1 mutations were identified: a splice-site mutation c.985-2A>G in family F1 and a nonsense mutation c.2197C>T (p.R733X) in family F2
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Functional role of the KLF6 tumour suppressor gene in gastric cancer.
PMID 19101139 · PMC2970616 · European journal of cancer (Oxford, England : 1990) · 2009 · 7 claims · 8 setups
The KLF6 locus undergoes loss of heterozygosity (LOH) in a majority of gastric cancer samples and is associated with advanced tumour stage
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targetTB: a target identification pipeline for Mycobacterium tuberculosis through an interactome, reactome and genome-scale structural analysis.
PMID 19099550 · PMC2651862 · BMC systems biology · 2008 · 8 claims · 8 setups
A comprehensive in silico target identification pipeline (targetTB) integrating interactome, reactome, essentiality, sequence and structural analyses can identify high-confidence drug targets for Mtb
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KEGG spider: interpretation of genomics data in the context of the global gene metabolic network.
PMID 19094223 · PMC2646283 · Genome biology · 2008 · 8 claims · 8 setups
KEGG spider, using a global 'pathway-free' metabolic network framework, provides deeper insight into metabolism variations than existing enrichment-based methods.