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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An integrated genomic analysis of human glioblastoma multiforme.
PMID 18772396 · PMC2820389 · Science (New York, N.Y.) · 2008 · 8 claims · 7 setups
IDH1 is recurrently mutated at its active site (R132) in 12% of GBM patients, a previously unrecognized alteration in GBM.
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Biodefense versus bioterrorism.
PMID 18771576 · PMC2575524 · Genome biology · 2008 · 5 claims · 4 setups
Whole-genome sequencing and comparative genomics of the attack strain were used to trace the anthrax letters to a specific laboratory flask
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Associations between hepatitis B virus genotype and mutants and the risk of hepatocellular carcinoma.
PMID 18695135 · PMC2518166 · Journal of the National Cancer Institute · 2008 · 8 claims · 7 setups
HBV genotype C is an independent risk factor for HCC compared with genotype B
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Natural variation of HIV-1 group M integrase: implications for a new class of antiretroviral inhibitors.
PMID 18687142 · PMC2546438 · Retrovirology · 2008 · 7 claims · 6 setups
Integrase displays significantly less inter- and intra-subtype amino acid diversity and lower Shannon's entropy than protease or RT.
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Prediction by graph theoretic measures of structural effects in proteins arising from non-synonymous single nucleotide polymorphisms.
PMID 18654622 · PMC2447880 · PLoS computational biology · 2008 · 8 claims · 5 setups
Bongo identifies mutations causing local and global structural effects with a remarkably low false positive rate
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Seasonality of influenza A(H3N2) virus: a Hong Kong perspective (1997-2006).
PMID 18648550 · PMC2481298 · PloS one · 2008 · 7 claims · 4 setups
Influenza A(H3N2) seasonality is largely explained by global viral migration, with similar viruses appearing in different countries at different times
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Impairment of adolescent hippocampal plasticity in a mouse model for Alzheimer's disease precedes disease phenotype.
PMID 18648492 · PMC2447155 · PloS one · 2008 · 8 claims · 5 setups
APP23 transgenic mice show significant protein spot alterations versus wildtype in cortex and hippocampus at all examined ages (ED16, 1, 2, 7, 15 months), largely preceding amyloid plaque formation
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Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.
PMID 18626973 · PMC2570015 · Annals of neurology · 2008 · 8 claims · 8 setups
Clinical features of Dok-7 myasthenia are highly variable, ranging from mild static limb-girdle weakness to severe generalized progressive disease
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Defining disease with laser precision: laser capture microdissection in gastroenterology.
PMID 18619446 · PMC3736118 · Gastroenterology · 2008 · 8 claims · 8 setups
LCM allows isolation of pure cell populations from heterogeneous tissue without damaging DNA, RNA, or protein integrity.
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Massively parallel pyrosequencing in HIV research.
PMID 18614863 · PMC4221253 · AIDS (London, England) · 2008 · 8 claims · 8 setups
Massively parallel pyrosequencing platforms (454/Roche, Solexa/Illumina) enable very high-throughput DNA sequencing, up to ~1 billion bases per run
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Machine-learning approaches for classifying haplogroup from Y chromosome STR data.
PMID 18551166 · PMC2396484 · PLoS computational biology · 2008 · 8 claims · 5 setups
Y-STR allelic variability is partitioned more by differences among haplogroups than by differences among populations, suggesting Y-STRs carry haplogroup information
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Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study.
PMID 18539534 · PMC2832754 · The Lancet. Neurology · 2008 · 8 claims · 7 setups
LRRK2-associated PD can be distinguished from idiopathic PD by a more benign motor and non-motor phenotype
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What can genome-wide association studies tell us about the genetics of common disease?
PMID 18454206 · PMC2323402 · PLoS genetics · 2008 · 8 claims · 4 setups
Apparent patterns of common, low-effect disease-associated alleles largely reflect statistical power of studies rather than the true underlying distribution of disease variants
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Worldwide distribution of NAT2 diversity: implications for NAT2 evolutionary history.
PMID 18304320 · PMC2292740 · BMC genetics · 2008 · 8 claims · 8 setups
NAT2 coding region sequence variation in the Mandenka and other sub-Saharan African populations is consistent with selective neutrality and constant population size.
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Identification of ERGIC-53 as an intracellular transport receptor of alpha1-antitrypsin.
PMID 18283111 · PMC2265576 · The Journal of cell biology · 2008 · 8 claims · 6 setups
α1-antitrypsin is a novel ERGIC-53 cargo protein identified via a YFP protein-fragment complementation assay (PCA) cDNA library screen
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Discovery and validation of new molecular targets in treating dyslipidemia: the role of human genetics.
PMID 20211435 · PMC3328807 · Trends in cardiovascular medicine · 2009 · 8 claims · 8 setups
Mendelian randomization uses genetic variants as a 'randomized trial of nature' to assess causal relationships between lipid biomarkers and CHD, overcoming confounding and reverse causality limitations of observational epidemiology.
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Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.
PMID 20023659 · PMC2980844 · Nature genetics · 2010 · 8 claims · 8 setups
Mutations in INF2, a formin family actin-regulating protein, cause autosomal dominant focal segmental glomerulosclerosis (FSGS)
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Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current.
PMID 20009079 · PMC2810855 · Circulation. Arrhythmia and electrophysiology · 2009 · 7 claims · 5 setups
Six rare SNTA1 missense mutations (G54R, P56S, T262P, S287R, T372M, G460S) were identified in 8 of 292 (2.7%) SIDS cases, absent from 800 reference alleles
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Personalized medicine: the future is not what it used to be.
PMID 19958922 · PMC2844719 · Surgery · 2009 · 8 claims · 8 setups
Many rare tumors harbor a genomic Achilles heel that can be exploited for targeted therapy
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Technical challenges in using human induced pluripotent stem cells to model disease.
PMID 19951687 · PMC2921621 · Cell stem cell · 2009 · 8 claims · 8 setups
hiPSCs generated from patient somatic cells (skin, blood) can be differentiated into disease-relevant cell types to model disease pathogenesis in vitro