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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High resolution melting for mutation scanning of TP53 exons 5-8.
PMID 17764544 · PMC2025602 · BMC cancer · 2007 · 7 claims · 5 setups
HRM is an effective technique for rapid scanning of TP53 mutations that can markedly reduce required sequencing
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Prominent neuroleptic sensitivity in a case of early-onset Alzheimer disease due to presenilin-1 G206A mutation.
PMID 18797263 · PMC4867177 · Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology · 2008 · 8 claims · 8 setups
A patient with the PS-1 G206A mutation developed prominent extrapyramidal signs (EPS) shortly after starting the atypical neuroleptic risperidone, which resolved completely after the drug was discontinued.
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A space-efficient and accurate method for mapping and aligning cDNA sequences onto genomic sequence.
PMID 18344523 · PMC2377433 · Nucleic acids research · 2008 · 7 claims · 6 setups
Spaln maps and aligns large cDNA sequence sets onto whole mammalian genomes using substantially less memory than comparable existing tools
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Of brain and bone: the unusual case of Dr. A.
PMID 20183548 · PMC2997763 · Neurocase · 2009 · 7 claims · 8 setups
Dr. A's EXT2 mutation may play a role in the pattern of neurodegeneration seen in his FTD, given that Ext1-knockout mice show CNS defects including loss of olfactory bulbs and abnormally small cerebral cortex
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We are the genes we've been waiting for: rational responses to the gathering storm of personal genomics.
PMID 19998110 · PMC3749831 · The American journal of bioethics : AJOB · 2009 · 8 claims · 5 setups
Medical establishment critics dismissed PGT information in 2008 as either not worth much or dangerous
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Discovery and identification of potential biomarkers of papillary thyroid carcinoma.
PMID 19785722 · PMC2761863 · Molecular cancer · 2009 · 8 claims · 7 setups
A 3-peak (m/z 9190, 6631, 8697 Da) SVM classification model discriminates PTC from non-cancer controls with high sensitivity and specificity
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Nursing advocacy in a postgenomic age.
PMID 19850180 · PMC2766592 · The Nursing clinics of North America · 2009 · 8 claims · 3 setups
Nurses need genetics/genomics competency (knowledge, reasoning, and action) to be effective patient advocates in the post-genomic era
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Has reproduction · 57
Design considerations for workflow management systems use in production genomics research and the clinic.
PMID 34737383 · PMC8569008 · Scientific reports · 2021 · 8 claims · 2 setups
The choice of WfMS depends both on intrinsic language/engine features and on adoption, collaboration, and technical support within bioinformatics consortia.
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Has reproduction · 92
Draft Genome Sequences of Antimicrobial-Resistant Shigella Clinical Isolates from Pakistan.
PMID 31346012 · PMC6658682 · Microbiology resource announcements · 2019 · 6 claims · 7 setups
Draft genome sequences of three multidrug-resistant Shigella clinical isolates from Pakistan (two S. flexneri, one S. sonnei) are reported as a resource for AMR surveillance.
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Has reproduction · 59
Integrative network modeling reveals mechanisms underlying T cell exhaustion.
PMID 32024856 · PMC7002445 · Scientific reports · 2020 · 8 claims · 7 setups
TCE arises from changes in diverse gene regulatory interactions across a shared network rather than dysregulation of a single gene
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Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing.
PMID 11710958 · PMC59832 · BMC genetics · 2001 · 7 claims · 6 setups
DHPLC screening combined with direct sequencing detects likely disease-causative point mutations in the dystrophin gene missed by multiplexed PCR deletion/duplication testing
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The brain-derived neurotrophic factor rs6265 (Val66Met) polymorphism and depression in Mexican-Americans.
PMID 17632285 · PMC2686836 · Neuroreport · 2007 · 7 claims · 4 setups
BDNF SNP rs6265 (Val66Met) is significantly associated with diagnosis of major depression in Mexican-Americans
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The human phylome.
PMID 17567924 · PMC2394744 · Genome biology · 2007 · 6 claims · 5 setups
Reconstruction of the human phylome: evolutionary trees for all human proteins and their homologs among 39 fully sequenced eukaryotic genomes, using a pipeline combining alignment trimming, NJ, ML (PhyML) and Bayesian (MrBayes) methods.
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VEGF, FGF1, FGF2 and EGF gene polymorphisms and psoriatic arthritis.
PMID 17204151 · PMC1781940 · BMC musculoskeletal disorders · 2007 · 7 claims · 5 setups
The T allele of VEGF +936 (rs3025039) is significantly less frequent in PsA cases than in controls, suggesting a protective effect against PsA.
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Genotype differences in cognitive functioning in Noonan syndrome.
PMID 19077116 · PMC2760992 · Genes, brain, and behavior · 2009 · 8 claims · 6 setups
Genotype differences account for some of the variation in cognitive ability in Noonan syndrome
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Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.
PMID 18808722 · PMC2570672 · BMC medical genetics · 2008 · 8 claims · 7 setups
LQTS-associated mutations were identified in 8 of 112 families studied
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The association of membrane frizzled-related protein (MFRP) gene with acute angle-closure glaucoma--a pilot study.
PMID 18781223 · PMC2532703 · Molecular vision · 2008 · 8 claims · 4 setups
None of the three MFRP sequence variants tested (rs3814762, rs36015759, rs2510143) showed a statistically significant association with acute angle-closure glaucoma
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CCL genes in multiple sclerosis and systemic lupus erythematosus.
PMID 18602166 · PMC5301077 · Journal of neuroimmunology · 2008 · 7 claims · 5 setups
Previously suggested borderline CCL marker/haplotype associations with MS are rejected after Bonferroni correction for multiple testing
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Commonality of functional annotation: a method for prioritization of candidate genes from genome-wide linkage studies.
PMID 18263617 · PMC2275105 · Nucleic acids research · 2008 · 8 claims · 7 setups
Genes correlated with a common complex trait are more likely to share GO functional annotations than genes not correlated with that trait
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The role of medical structural genomics in discovering new drugs for infectious diseases.
PMID 19855826 · PMC2756625 · PLoS computational biology · 2009 · 8 claims · 6 setups
Structure-based drug design using X-ray/NMR protein structures has contributed to the development of numerous approved and improved therapeutics.