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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Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies.
PMID 17953491 · PMC2039766 · PLoS genetics · 2007 · 8 claims · 5 setups
CNVs are not easily tagged by SNPs and often fall in genomic regions poorly covered by whole-genome SNP arrays or not genotyped by HapMap, so current GWASs have largely missed their contribution to complex disorders.
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High-throughput genomic technology in research and clinical management of breast cancer. Evolving landscape of genetic epidemiological studies.
PMID 16834767 · PMC1557740 · Breast cancer research : BCR · 2006 · 8 claims · 5 setups
Candidate polymorphism-based genetic epidemiological studies have yielded little success in identifying low-penetrance breast cancer susceptibility genes, largely due to poor genomic coverage and inadequate statistical power.
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Systems genetics of alcoholism.
PMID 23584748 · PMC3860445 · Alcohol research & health : the journal of the National Institute on Alcohol Abuse and Alcoholism · 2008 · 8 claims · 8 setups
Alcoholism is a multifactorial disease driven by interacting genetic, social, and environmental factors, with genetics accounting for 50-60% of risk.
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Broad network-based predictability of Saccharomyces cerevisiae gene loss-of-function phenotypes.
PMID 18053250 · PMC2246260 · Genome biology · 2007 · 8 claims · 4 setups
Loss-of-function phenotypes in yeast are predictable from a gene's connections in a functional gene network via guilt-by-association.
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Evolutionary origins of human apoptosis and genome-stability gene networks.
PMID 18832373 · PMC2577361 · Nucleic acids research · 2008 · 8 claims · 8 setups
The entanglement of DNA repair, chromosome stability and apoptosis gene networks appears with the caspase gene family and the antiapoptotic gene BCL2.
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Has reproduction · 87
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
PMID 39256359 · PMC11387733 · Nature communications · 2024 · 8 claims · 7 setups
Heterozygous missense or loss-of-function variants in LRRC7 cause a dominant neurodevelopmental disorder in 33 identified individuals
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Genetic and epigenetic contributions to human nutrition and health: managing genome-diet interactions.
PMID 18755320 · PMC5421377 · Journal of the American Dietetic Association · 2008 · 8 claims · 7 setups
Folate-mediated one-carbon metabolism is a conduit linking the cellular nutrient environment to genome regulation via nucleotide biosynthesis for DNA synthesis and SAM biosynthesis for genome methylation.
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Systems biology approaches for the study of multiple sclerosis.
PMID 18505469 · PMC3865652 · Journal of cellular and molecular medicine · 2008 · 8 claims · 8 setups
The MHC locus on chromosome 6p21 is the strongest genetic region linked to MS susceptibility.
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Has reproduction · 60
A comparative analysis of blastoid models through single-cell transcriptomics.
PMID 39524369 · PMC11543915 · iScience · 2024 · 8 claims · 7 setups
EPSC-derived blastoids are transcriptomically distinct from nPSC-derived blastoids, with nPSC-blastoids clustering closer to natural blastocysts.
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Genetic polymorphisms in monoamine neurotransmitter systems show only weak association with acute post-surgical pain in humans.
PMID 16848906 · PMC1543620 · Molecular pain · 2006 · 8 claims · 5 setups
COMT SNP5 (rs740603, intron 1) shows significant association with maximum post-operative pain rating
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Addressing the obesity epidemic: a genomics perspective.
PMID 17362622 · PMC1893129 · Preventing chronic disease · 2007 · 8 claims · 8 setups
Obesity is a multifactorial disorder reflecting complex interactions of genes, environment, and lifestyle
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PDA: Pooled DNA analyzer.
PMID 16643673 · PMC1539032 · BMC bioinformatics · 2006 · 8 claims · 4 setups
No software existed prior to PDA for complete pooled-DNA analysis including data standardization, allele frequency estimation, and single/multipoint association tests
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Has reproduction · 84
AI-assisted discovery of an ethnicity-influenced driver of cell transformation in esophageal and gastroesophageal junction adenocarcinomas.
PMID 36134663 · PMC9675486 · JCI insight · 2022 · 8 claims · 8 setups
An AI-guided Boolean network approach (BoNE) models transcriptomic continuum states of normal esophagus, BE, and EAC to derive classifier gene signatures
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Has reproduction · 94
Genome-wide insights into population structure and host specificity of Campylobacter jejuni.
PMID 33990625 · PMC8121833 · Scientific reports · 2021 · 8 claims · 6 setups
Both core and accessory genome characteristics show strong association with distinct host animal species, indicating multiple independent adaptive trajectories rather than a single common evolutionary path
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The role of positive selection in determining the molecular cause of species differences in disease.
PMID 18837980 · PMC2576240 · BMC evolutionary biology · 2008 · 8 claims · 6 setups
Genes predicted to be under positive selection during human evolution are implicated in diseases (epithelial cancers, schizophrenia, autoimmune diseases, Alzheimer's disease) that differ in prevalence and symptomatology between humans and other mammals
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Isolated populations and complex disease gene identification.
PMID 18771588 · PMC2575505 · Genome biology · 2008 · 8 claims · 5 setups
Isolated/founder populations are useful for identifying genes underlying common complex diseases, not just rare monogenic diseases.
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A method for detecting epistasis in genome-wide studies using case-control multi-locus association analysis.
PMID 18667089 · PMC2533022 · BMC genomics · 2008 · 7 claims · 2 setups
HFCC is a method/software for genome-wide epistasis detection using case-control multi-locus association analysis, combining a fast computing algorithm with flexibility to test a variety of epistatic models.
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FatiGO +: a functional profiling tool for genomic data. Integration of functional annotation, regulatory motifs and interaction data with microarray experiments.
PMID 17478504 · PMC1933151 · Nucleic acids research · 2007 · 8 claims · 8 setups
FatiGO+ is a web-based tool for functional profiling of genome-scale experiments that integrates functional annotation, regulatory motifs and interaction data
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Widespread dysregulation of MiRNAs by MYCN amplification and chromosomal imbalances in neuroblastoma: association of miRNA expression with survival.
PMID 19924232 · PMC2773120 · PloS one · 2009 · 8 claims · 5 setups
37 miRNAs are significantly differentially expressed between MYCN-amplified (MNA) and non-MNA neuroblastoma tumors, suggesting direct or indirect regulation by MYCN
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The 21st century hepatologist and a systems biology based approach to liver diseases.
PMID 19026013 · PMC2712824 · Hepatology (Baltimore, Md.) · 2008 · 7 claims · 3 setups
Network models covering the majority of an organism's genes can accurately predict phenotypic effects of gene perturbations in multicellular organisms