ReviewHuman molecular genetics2013
In search of low-frequency and rare variants affecting complex traits.
Review in Human molecular genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 1 of them a synthesis 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
47 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Exome-chip meta-analysis identifies association between variation in ANKRD26 and platelet aggregation.Platelets · 2019Pooled it
- Article
- The role ofFrontiers in immunology · 2026Article
- The Genetic Factors Influencing Cardiomyopathies and Heart Failure across the Allele Frequency Spectrum.Journal of cardiovascular translational research · 2024Review
- Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes.Molecular neurobiology · 2023Article
- Impact of pre- and post-variant filtration strategies on imputation.Scientific reports · 2021Article
- locStra: Fast analysis of regional/global stratification in whole-genome sequencing studies.Genetic epidemiology · 2021Article
- Whole-exome sequencing reveals ANO8 as a genetic risk factor for intrahepatic cholestasis of pregnancy.BMC pregnancy and childbirth · 2020Article
- Does the CD33 rs3865444 Polymorphism Confer Susceptibility to Alzheimer's Disease?Journal of molecular neuroscience : MN · 2020Article
- Improved power and precision with whole genome sequencing data in genome-wide association studies of inflammatory biomarkers.Scientific reports · 2019Article
- Clinical-pathological correlations of BAV and the attendant thoracic aortopathies. Part 2: Pluridisciplinary perspective on their genetic and molecular origins.Journal of molecular and cellular cardiology · 2019Review
- Genetic predisposition to necrotizing enterocolitis in premature infants: Current knowledge, challenges, and future directions.Seminars in fetal & neonatal medicine · 2018Review
- Whole Exome Sequencing of Patients from Multicase Families with Systemic Lupus Erythematosus Identifies Multiple Rare Variants.Scientific reports · 2018Article
- What Does This Mutation Mean? The Tools and Pitfalls of Variant Interpretation in Lymphoid Malignancies.International journal of molecular sciences · 2018Review
- Mutational analysis of IZUMO1R in women with fertilization failure and polyspermy after in vitro fertilization.Journal of assisted reproduction and genetics · 2018Article
- Article
- Genetics of Alzheimer's Disease: the Importance of Polygenic and Epistatic Components.Current neurology and neuroscience reports · 2017Review
- De NovoJournal of the American Heart Association · 2017Article
- Article
- On the association analysis of genome-sequencing data: A spatial clustering approach for partitioning the entire genome into nonoverlapping windows.Genetic epidemiology · 2017Article
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
The allelic architecture of complex traits is likely to be underpinned by a combination of multiple common frequency and rare variants. Targeted genotyping arrays and next-generation sequencing technologies at the whole-genome sequencing (WGS) and whole-exome scales (WES) are increasingly employed to access sequence variation across the full minor allele frequency (MAF) spectrum. Different study design strategies that make use of diverse technologies, imputation and sample selection approaches are an active target of development and evaluation efforts. Initial insights into the contribution of rare variants in common diseases and medically relevant quantitative traits point to low-frequency and rare alleles acting either independently or in aggregate and in several cases alongside common variants. Studies conducted in population isolates have been successful in detecting rare variant associations with complex phenotypes. Statistical methodologies that enable the joint analysis of rare variants across regions of the genome continue to evolve with current efforts focusing on incorporating information such as functional annotation, and on the meta-analysis of these burden tests. In addition, population stratification, defining genome-wide statistical significance thresholds and the design of appropriate replication experiments constitute important considerations for the powerful analysis and interpretation of rare variant association studies. Progress in addressing these emerging challenges and the accrual of sufficiently large data sets are poised to help the field of complex trait genetics enter a promising era of discovery.
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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.