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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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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Visual exploration of genetic association with voxel-based imaging phenotypes in an MCI/AD study.
PMID 19963597 · PMC2928997 · Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference · 2009 · 6 claims · 4 setups
Developed an imaging genomic browsing system allowing whole genome and entire brain analyses via visual exploration
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Current status and the future for the genetics of type I diabetes.
PMID 19956094 · PMC2805458 · Genes and immunity · 2009 · 8 claims · 7 setups
A T1DGC genome-wide association meta-analysis of >7500 cases and >9000 controls identified 42 distinct genomic locations associated with T1D at P<10^-6.
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Functional features of gene expression profiles differentiating gastrointestinal stromal tumours according to KIT mutations and expression.
PMID 19943934 · PMC2794290 · BMC cancer · 2009 · 8 claims · 5 setups
Hundreds of genes differentiate GISTs according to KIT versus PDGFRA mutation and expression status, despite no discriminative profile for clinical/pathological parameters.
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Population structure analyses and demographic history of the malaria vector Anopheles albimanus from the Caribbean and the Pacific regions of Colombia.
PMID 19922672 · PMC2789746 · Malaria journal · 2009 · 8 claims · 8 setups
Two distinctive COI haplotype groups were consistently detected, corresponding to the Caribbean and Pacific regions.
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Genetic variation in PARL influences mitochondrial content.
PMID 19862556 · PMC2829432 · Human genetics · 2010 · 7 claims · 5 setups
PARL is a key regulator of mitochondrial integrity and function and plays a role in cellular apoptosis
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Evolutionary dynamics of human rotaviruses: balancing reassortment with preferred genome constellations.
PMID 19851457 · PMC2760143 · PLoS pathogens · 2009 · 8 claims · 4 setups
Genetically distinct RV clades of the same G/P-type (G3P[8]) can co-circulate within a single epidemic season and cause disease
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Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.
PMID 19844255 · PMC2824775 · European journal of human genetics : EJHG · 2010 · 7 claims · 7 setups
A locus on chromosome 16q23-24 affects HDL-C levels in two independent French-Canadian family studies (QUE and SLSJ)
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Analysis of genetic variability and whole genome linkage of whole-brain, subcortical, and ependymal hyperintense white matter volume.
PMID 19834011 · PMC2787844 · Stroke · 2009 · 8 claims · 5 setups
Whole-brain, subcortical, and ependymal HWM volumes are all highly heritable
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Search for genomic alterations in monozygotic twins discordant for cleft lip and/or palate.
PMID 19803774 · PMC2893889 · Twin research and human genetics : the official journal of the International Society for Twin Studies · 2009 · 7 claims · 5 setups
Postzygotic genomic alterations are not a common cause of monozygotic twin discordance for isolated cleft lip and/or palate.
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Detecting natural selection by empirical comparison to random regions of the genome.
PMID 19783549 · PMC2778377 · Human molecular genetics · 2009 · 8 claims · 5 setups
Comparing candidate loci to empirically matched random genomic regions (ENCODE data) avoids the strong demographic/mutation assumptions required by theoretical neutral models and provides a robust test for selection
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Single-molecule sequencing of an individual human genome.
PMID 19668243 · PMC4117198 · Nature biotechnology · 2009 · 8 claims · 7 setups
Single-molecule sequencing without cloning, amplification or ligation can sequence an individual human genome on one instrument by a single operator in four runs
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Recurring mutations found by sequencing an acute myeloid leukemia genome.
PMID 19657110 · PMC3201812 · The New England journal of medicine · 2009 · 8 claims · 8 setups
Deep paired tumor/normal whole-genome sequencing of a cytogenetically normal AML-M1 genome identified 12 somatic coding (tier 1) mutations and 52 somatic tier 2 (conserved/regulatory) mutations.
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PolyGenie: a reproducible Nextflow pipeline for phenome-wide association studies using polygenic risk scores.
PMID 42272542 · PMC13247587 · NAR genomics and bioinformatics · 2026 · 7 claims · 6 setups
PolyGenie is an open-source Nextflow pipeline that takes precomputed PRS and phenotype data as input and performs scalable PheWAS analysis across binary and continuous outcomes
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Effects of the brain-derived neurotrophic growth factor val66met variation on hippocampus morphology in bipolar disorder.
PMID 18704093 · PMC2837582 · Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2009 · 7 claims · 3 setups
Hippocampus volume is significantly smaller in BD subjects compared to healthy comparison (HC) subjects.
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Understanding genetic epidemiologic association studies Part 1: fundamentals.
PMID 19962167 · PMC2843757 · Surgery · 2010 · 8 claims · 3 setups
Genetic epidemiology aims to establish whether a disease has a genetic component while accounting for environmental influences.
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Polymorphisms of delta-aminolevulinic acid dehydratase (ALAD) and peptide transporter 2 (PEPT2) genes in children with low-level lead exposure.
PMID 19723536 · PMC2789866 · Neurotoxicology · 2009 · 7 claims · 3 setups
Children homozygous for the PEPT2*2 polymorphism have significantly higher blood lead levels than heterozygous or non-carrier children.
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SNP500Cancer: a public resource for sequence validation, assay development, and frequency analysis for genetic variation in candidate genes.
PMID 16381944 · PMC1347513 · Nucleic acids research · 2006 · 7 claims · 4 setups
SNP500Cancer provides sequence and genotype assay information for candidate cancer-related SNPs to support molecular epidemiology and complex disease mapping studies
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The detection of regions of our genome under selection has increasingly relied on the use of genome scans.
PMID 16197732 · PMC3525123 · Human genomics · 2005 · 8 claims · 3 setups
Markers linked to a locus under local adaptation show larger variance in allele frequencies across populations (higher FST) than neutral markers
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Including microbiome information in a multi-trait genomic evaluation: a case study on longitudinal growth performance in beef cattle.
PMID 38491422 · PMC10943865 · Genetics, selection, evolution : GSE · 2024 · 8 claims · 5 setups
The host genome's influence on the functional rumen microbiome contributes to temporal variation in average daily gain (ADG1-ADG4) across finishing months in beef cattle.