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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Clinical and genotypic findings in HIV-infected patients with the K65R mutation failing first-line antiretroviral therapy in Nigeria.
PMID 19644383 · PMC2815152 · Journal of acquired immune deficiency syndromes (1999) · 2009 · 8 claims · 3 setups
K65R mutation is present in a substantial proportion (10.9%) of Nigerian patients failing first-line ART, including many with no prior tenofovir exposure
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Inherited disorder phenotypes: controlled annotation and statistical analysis for knowledge mining from gene lists.
PMID 16351744 · PMC1866390 · BMC bioinformatics · 2005 · 5 claims · 3 setups
OMIM Clinical Synopsis free-text phenotype and location names can be normalized and hierarchically structured into a controlled vocabulary suitable for computational analysis
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Comparative genomic analysis of Campylobacter jejuni associated with Guillain-Barré and Miller Fisher syndromes: neuropathogenic and enteritis-associated isolates can share high levels of genomic similarity.
PMID 17919333 · PMC2174954 · BMC genomics · 2007 · 8 claims · 4 setups
GBS/MFS strains are genomically heterogeneous, falling into about six major lineages rather than a single clonal group
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Versatile and open software for comparing large genomes.
PMID 14759262 · PMC395750 · Genome biology · 2004 · 8 claims · 8 setups
MUMmer 3.0 efficiently handles comparisons of large eukaryotic genomes at varying evolutionary distances
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Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
PMID 16981987 · PMC1592085 · BMC medical genetics · 2006 · 8 claims · 6 setups
Mutations were identified in 64 of 84 (76%) TSC probands, comprising 9 TSC1 and 55 TSC2 mutations
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Relationships between emm and multilocus sequence types within a global collection of Streptococcus pyogenes.
PMID 18405369 · PMC2359762 · BMC microbiology · 2008 · 8 claims · 5 setups
emm type is often a poor marker for clonal genetic background across the global S. pyogenes collection
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Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases.
PMID 11720476 · PMC2375261 · British journal of cancer · 2001 · 8 claims · 5 setups
I1307K APC germline mutation carriers were identified in 28 of 307 (9.1%) unselected Israeli CRC patients
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Association of Escherichia coli O157:H7 tir polymorphisms with human infection.
PMID 17718910 · PMC2063500 · BMC infectious diseases · 2007 · 8 claims · 6 setups
tir polymorphisms 255 T>A and RR1-RU3 (presence/absence) associate strongly with human vs bovine isolate source
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BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.
PMID 18234728 · PMC2564862 · Journal of medical genetics · 2008 · 8 claims · 7 setups
BHD germline mutation detection rate was 88% (51/58 families) using direct DNA sequencing
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An online database for brain disease research.
PMID 16594998 · PMC1489945 · BMC genomics · 2006 · 7 claims · 5 setups
SMRIDB is a comprehensive web-based database integrating gene expression data and clinical metadata to aid understanding of the genetic effects of brain disease (bipolar disorder, schizophrenia, depression)
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Correlations of EGFR mutations and increases in EGFR and HER2 copy number to gefitinib response in a retrospective analysis of lung cancer patients.
PMID 17626639 · PMC1952070 · BMC cancer · 2007 · 7 claims · 4 setups
EGFR mutations (exon 19 deletions, exon 21 L858R) did not correlate with gefitinib response in this cohort
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Mutant, wild type, or overall p53 expression: freedom from clinical progression in tumours of astrocytic lineage.
PMID 15494720 · PMC2409947 · British journal of cancer · 2004 · 8 claims · 7 setups
Significant overexpression of p53 protein was found in 48% of 74 astrocytic tumours
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Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish.
PMID 16515697 · PMC1448207 · BMC medical genetics · 2006 · 8 claims · 7 setups
CMS compares IBS allele/genotype sharing between distantly related (beyond grandparental) affected and unaffected individuals from founder populations to detect disease loci while reducing confounding from population stratification and genetic heterogeneity.
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A role for the p53 pathway in the pathology of meningiomas with NF2 loss.
PMID 18974932 · PMC2692701 · Journal of neuro-oncology · 2009 · 7 claims · 4 setups
The Pro72 allele of p53 codon 72 was not selected for in the meningioma cohort, and its distribution did not differ from control populations, indicating no role in meningioma initiation.
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Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus.
PMID 20029656 · PMC2796875 · Molecular vision · 2009 · 6 claims · 5 setups
No disease-causing mutations in COL4A3 or COL4A4 were found to be related to KC.
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Chromosome alterations and E-cadherin gene mutations in human lobular breast cancer.
PMID 10584868 · PMC2374316 · British journal of cancer · 1999 · 8 claims · 5 setups
LOH at chromosome 16q21-q22.1 occurs in 100% of informative lobular breast tumours, the highest frequency of any region tested
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Genetic variation in Pneumocystis carinii isolates from different geographic regions: implications for transmission.
PMID 10827116 · PMC2640877 · Emerging infectious diseases · 2000 · 8 claims · 4 setups
Genotype frequency distribution patterns varied significantly by patient's place of diagnosis but not by place of birth
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Localized-statistical quantification of human serum proteome associated with type 2 diabetes.
PMID 18795103 · PMC2529402 · PloS one · 2008 · 8 claims · 5 setups
Developed LSPAD (localized statistics of protein abundance distribution) to calculate statistical significance of protein-abundance bias between two serum cohorts using a local Fisher's exact test window
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Detection of BRAF mutations in the tumour and serum of patients enrolled in the AZD6244 (ARRY-142886) advanced melanoma phase II study.
PMID 19861964 · PMC2778539 · British journal of cancer · 2009 · 7 claims · 8 setups
BRAF mutations can be detected in serum cfDNA of advanced melanoma patients using an ARMS allele-specific PCR assay
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BABELOMICS: a systems biology perspective in the functional annotation of genome-scale experiments.
PMID 16845052 · PMC1538844 · Nucleic acids research · 2006 · 8 claims · 8 setups
Babelomics is presented as an updated, complete suite of web tools for functional analysis of genome-scale experiments with new and improved modules