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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Undergraduate research. Genomics Education Partnership.
PMID 18974335 · PMC2953277 · Science (New York, N.Y.) · 2008 · 6 claims · 4 setups
A course-embedded, multi-institution undergraduate research model (the Genomics Education Partnership) can deliver authentic research experiences during the academic year rather than only in summer programs.
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Predicting candidate genes for human deafness disorders: a bioinformatics approach.
PMID 16854223 · PMC1564145 · BMC genomics · 2006 · 8 claims · 4 setups
A bioinformatic approach combining expression databases and protein interaction data narrows ~2400 candidate genes across deafness loci to a manageable set of candidates.
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Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.
PMID 17437275 · PMC2696796 · Human mutation · 2007 · 7 claims · 5 setups
Four novel pathogenic ZEB1 mutations (two deletions, one nonsense, one duplication, all in exon 7) were identified in four of ten unrelated Czech/British PPCD families
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Review of state Comprehensive Cancer Control plans for genomics content.
PMID 15888219 · PMC1327702 · Preventing chronic disease · 2005 · 8 claims · 2 setups
18 of 30 state CCC plans analyzed contained genomics-related components, with wide variability in content
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Integrating alternative splicing detection into gene prediction.
PMID 15705189 · PMC550657 · BMC bioinformatics · 2005 · 8 claims · 4 setups
An integrative intrinsic/extrinsic method was implemented in the gene finder EuGÈNE (as EuGÈNE-M) to detect AS evidence from aligned transcripts and generate alternative optimal gene predictions consistent with each detected AS event.
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Multiple epiphyseal dysplasia.
PMID 19995321 · PMC2823319 · Acta orthopaedica · 2009 · 8 claims · 4 setups
An exon 3/intron 3 donor splice mutation (IVS3DS [+2] T>C) in COL9A2 was identified in all affected family members
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Genomics and public health: development of Web-based training tools for increasing genomic awareness.
PMID 15888236 · PMC1327719 · Preventing chronic disease · 2005 · 7 claims · 4 setups
Web-based training tools (Genomics for Public Health Practitioners and Six Weeks to Genomic Awareness) can increase genomic awareness among public health practitioners nationwide.
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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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Whole genome distribution and ethnic differentiation of copy number variation in Caucasian and Asian populations.
PMID 19956714 · PMC2776354 · PloS one · 2009 · 8 claims · 5 setups
3,019 CNVs (2,381 autosomal, 638 X chromosome) were identified across 985 Caucasian and 692 Asian individuals using the Affymetrix 500K array
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A clinical genetic method to identify mechanisms by which pain causes depression and anxiety.
PMID 16623937 · PMC1488826 · Molecular pain · 2006 · 8 claims · 4 setups
Pain-triggered depression/anxiety are mediated by distinct spino-parabrachial-hypothalamic-amygdalar neurochemical pathways compared to mood disorders independent of pain
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Classification of real and pseudo microRNA precursors using local structure-sequence features and support vector machine.
PMID 16381612 · PMC1360673 · BMC bioinformatics · 2005 · 7 claims · 7 setups
A 32-dimensional triplet structure-sequence feature vector combined with SVM (triplet-SVM) can distinguish real human pre-miRNAs from pseudo pre-miRNA hairpins with ~90% accuracy.
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ChimerDB--a knowledgebase for fusion sequences.
PMID 16381848 · PMC1347382 · Nucleic acids research · 2006 · 8 claims · 6 setups
ChimerDB integrates bioinformatics analysis of mRNA/EST sequences, manually collected literature data, and OMIM translocation data into a single fusion sequence knowledgebase
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Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.
PMID 18802454 · PMC2527686 · PLoS genetics · 2008 · 8 claims · 6 setups
Three heterozygous missense mutations (p.M337V, p.N345K, p.I383V) in exon 6 of TARDBP were identified in familial ALS patients
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Coffee, caffeine-related genes, and Parkinson's disease: a case-control study.
PMID 18759349 · PMC4554698 · Movement disorders : official journal of the Movement Disorder Society · 2008 · 8 claims · 5 setups
Coffee drinking (ever/never or by cups/day) was not associated with PD susceptibility
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Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.
PMID 19753312 · PMC2742639 · Molecular vision · 2009 · 7 claims · 4 setups
Mutations responsible for over 30% of LCA cases in northern America were found in only 2.6% of LCA cases in a southern Indian cohort.
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The association between headache and Val158Met polymorphism in the catechol-O-methyltransferase gene: the HUNT Study.
PMID 16688411 · PMC3451703 · The journal of headache and pain · 2006 · 7 claims · 3 setups
No association was found between COMT Val158Met polymorphism and migraine in a population-based sample.