ArticleCell2013
Distilling pathophysiology from complex disease genetics.
Article in Cell, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
44 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Genetic Association and Risk Scores in a Chronic Obstructive Pulmonary Disease Meta-analysis of 16,707 Subjects.American journal of respiratory cell and molecular biology · 2017Pooled it
- Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.The Lancet. Respiratory medicine · 2014Pooled it
- Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage.Proceedings of the National Academy of Sciences of the United States of America · 2016Trial
- Loss of paired immunoglobin-like type 2 receptor B gene associated with age-related macular degeneration impairs photoreceptor function in mouse retina.Human molecular genetics · 2025Article
- Therapeutic Challenges and Emerging Treatment Targets for Pulmonary Hypertension in Left Heart Disease.Journal of the American Heart Association · 2021Review
- Lethal Infectious Diseases as Inborn Errors of Immunity: Toward a Synthesis of the Germ and Genetic Theories.Annual review of pathology · 2021Review
- Genomic Variation, Evolvability, and the Paradox of Mental Illness.Frontiers in psychiatry · 2020Article
- A framework for the investigation of rare genetic disorders in neuropsychiatry.Nature medicine · 2019Review
- Homozygosity forProceedings of the National Academy of Sciences of the United States of America · 2019Article
- The virtuous cycle of human genetics and mouse models in drug discovery.Nature reviews. Drug discovery · 2019Review
- Rediscovering the value of families for psychiatric genetics research.Molecular psychiatry · 2019Review
- Pathways to neurodegeneration: lessons learnt from unbiased genetic screens inJournal of genetics · 2018Review
- Connecting Neuronal Cell Protective Pathways and Drug Combinations in a Huntington's Disease Model through the Application of Quantitative Systems Pharmacology.Scientific reports · 2017Article
- Base-resolution stratification of cancer mutations using functional variomics.Nature protocols · 2017Article
- Functional variomics and network perturbation: connecting genotype to phenotype in cancer.Nature reviews. Genetics · 2017Review
- Drosophila and genome-wide association studies: a review and resource for the functional dissection of human complex traits.Disease models & mechanisms · 2017Review
- Method for generating multiple risky barcodes of complex diseases using ant colony algorithm.Theoretical biology & medical modelling · 2017Article
- NRL-Regulated Transcriptome Dynamics of Developing Rod Photoreceptors.Cell reports · 2016Article
- Next generation sequencing technology and genomewide data analysis: Perspectives for retinal research.Progress in retinal and eye research · 2016Review
- A Perspective on Implementing a Quantitative Systems Pharmacology Platform for Drug Discovery and the Advancement of Personalized Medicine.Journal of biomolecular screening · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
Abstract
Technologies for genome-wide sequence interrogation have dramatically improved our ability to identify loci associated with complex human disease. However, a chasm remains between correlations and causality that stems, in part, from a limiting theoretical framework derived from Mendelian genetics and an incomplete understanding of disease physiology. Here we propose a set of criteria, akin to Koch's postulates for infectious disease, for assigning causality between genetic variants and human disease phenotypes.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.