ReviewNature reviews. Genetics2010
Uncovering the roles of rare variants in common disease through whole-genome sequencing.
Review in Nature reviews. Genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02146872 (Premature Coronary Artery Disease - Clinical and Molecular Genetic Aspects), which is not on this map. Cited by 607 papers, 6 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.
Premature Coronary Artery Disease - Clinical and Molecular Genetic Aspects
Who cites it
607 citing papers in PubMed, 6 syntheses or guidelines pooled it.
- Gene therapy for intracranial aneurysms: systemic review.Journal of neurointerventional surgery · 2025Pooled it
- Methodological quality assessment of genetic studies on brain arteriovenous malformation related hemorrhage: A cross-sectional study.Frontiers in genetics · 2023Pooled it
- Systematic Review of the Economic Evaluation of Returning Incidental Findings in Genomic Research.Frontiers in public health · 2021Pooled it
- Genetic susceptibility to cerebrovascular disease: A systematic review.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2018Pooled it
- Pooled it
- Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review.Journal of psychiatry & neuroscience : JPN · 2018Pooled it
- Functional polymorphisms in asporin and CILP together with joint loading predispose to hand osteoarthritis.BMC genetics · 2017Trial
- Integrated Analysis of SNPs and Structural Variations via High-depth Whole-genome Sequencing Reveals the Genetic Architecture and Optimizes Genomic Prediction in Chickens.Poultry science · 2026Article
- A key gene modulating oxytocin efficacy in autism: genome-wide discovery and verification in randomized controlled trials datasets.Molecular psychiatry · 2026Article
- Rare Germline Variants in Key Pathways Contribute to Hepatocellular Carcinoma Risk in Hispanic Individuals.Cancers · 2026Article
- Defining Pseudo-Haplotype Analysis Reveals Multi-Gene Genetic Pattern Across BAF Chromatin Remodeling Complexes.bioRxiv : the preprint server for biology · 2026Article
- Trans-regulation of heterochromatin underlies genetic variation in 3D genome contacts in mouse embryonic stem cells.Genome biology · 2026Article
- Limited penetrance of dominantly inherited AIRE variants in a population-based cohort.Human molecular genetics · 2026Article
- The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaboration.medRxiv : the preprint server for health sciences · 2026Article
- A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.Journal of atherosclerosis and thrombosis · 2026Article
- Genotype imputation performance in Nellore cattle across different SNP panels and software tools.Tropical animal health and production · 2026Article
- Scalable and accurate rare-variant association tests for whole genome sequencing time-to-event analysis in large biobanks.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Interstitial cystitis: a phenotype and rare variant exome sequencing study.EBioMedicine · 2026Article
- Both Fetal and Maternal Genotypes Affect Preeclampsia Pathogenesis in Iranian Patients.Biochemical genetics · 2026Article
- Exploration of candidate genes associated with rare SNVs in pulmonary stenosis using whole-exome sequencing and machine learning.Frontiers in genetics · 2026Article
547 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Although genome-wide association (GWA) studies for common variants have thus far succeeded in explaining only a modest fraction of the genetic components of human common diseases, recent advances in next-generation sequencing technologies could rapidly facilitate substantial progress. This outcome is expected if much of the missing genetic control is due to gene variants that are too rare to be picked up by GWA studies and have relatively large effects on risk. Here, we evaluate the evidence for an important role of rare gene variants of major effect in common diseases and outline discovery strategies for their identification.
Indexed as
Identifiers
20479773What 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.