SynthesisMolecular biology and evolution2012
Evolutionary meta-analysis of association studies reveals ancient constraints affecting disease marker discovery.
Synthesis in Molecular biology and evolution, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- Genomic and network patterns of schizophrenia genetic variation in human evolutionary accelerated regions.Molecular biology and evolution · 2015Pooled it
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- Unifying approaches from statistical genetics and phylogenetics for mapping phenotypes in structured populations.PLoS biology · 2024Article
- Evolutionary perspectives on polygenic selection, missing heritability, and GWAS.Human genetics · 2020Review
- Genome-wide analysis indicates association between heterozygote advantage and healthy aging in humans.BMC genetics · 2019Article
- On estimating evolutionary probabilities of population variants.BMC evolutionary biology · 2019Article
- Comparative Genomics Approaches Accurately Predict Deleterious Variants in Plants.G3 (Bethesda, Md.) · 2018Article
- Properties of human disease genes and the role of genes linked to Mendelian disorders in complex disease aetiology.Human molecular genetics · 2017Article
- e-GRASP: an integrated evolutionary and GRASP resource for exploring disease associations.BMC genomics · 2016Article
- Genomic insights into ayurvedic and western approaches to personalized medicine.Journal of genetics · 2016Review
- Allelic Spectra of Risk SNPs Are Different for Environment/Lifestyle Dependent versus Independent Diseases.PLoS genetics · 2015Article
- Expression quantitative trait locus analysis for translational medicine.Genome medicine · 2015Review
- Studying tumorigenesis through network evolution and somatic mutational perturbations in the cancer interactome.Molecular biology and evolution · 2014Article
- Human genomic disease variants: a neutral evolutionary explanation.Genome research · 2012Review
- Functional primate genomics--leveraging the medical potential.Journal of molecular medicine (Berlin, Germany) · 2012Review
- Population genetics of rare variants and complex diseases.Human heredity · 2012Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Genome-wide disease association studies contrast genetic variation between disease cohorts and healthy populations to discover single nucleotide polymorphisms (SNPs) and other genetic markers revealing underlying genetic architectures of human diseases. Despite scores of efforts over the past decade, many reproducible genetic variants that explain substantial proportions of the heritable risk of common human diseases remain undiscovered. We have conducted a multispecies genomic analysis of 5,831 putative human risk variants for more than 230 disease phenotypes reported in 2,021 studies. We find that the current approaches show a propensity for discovering disease-associated SNPs (dSNPs) at conserved genomic positions because the effect size (odds ratio) and allelic P value of genetic association of an SNP relates strongly to the evolutionary conservation of their genomic position. We propose a new measure for ranking SNPs that integrates evolutionary conservation scores and the P value (E-rank). Using published data from a large case-control study, we demonstrate that E-rank method prioritizes SNPs with a greater likelihood of bona fide and reproducible genetic disease associations, many of which may explain greater proportions of genetic variance. Therefore, long-term evolutionary histories of genomic positions offer key practical utility in reassessing data from existing disease association studies, and in the design and analysis of future studies aimed at revealing the genetic basis of common human diseases.
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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.