ArticleGenetic epidemiology2011
Population-based and family-based designs to analyze rare variants in complex diseases.
Article in Genetic epidemiology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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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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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.
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Who cites it
17 citing papers in PubMed.
- A longitudinal study of age-related traits and cognitive function: The Collaborative Amish Aging and Memory Project (CAAMP).medRxiv : the preprint server for health sciences · 2026Article
- A rapid review of genetic association studies of parent-of-origin effects and fetal growth.Molecular and cellular pediatrics · 2026Review
- Targeting Specific Checkpoints in the Management of SARS-CoV-2 Induced Cytokine Storm.Life (Basel, Switzerland) · 2022Review
- Identification of New Rare Variants Associated With Familial Autoimmune Thyroid Diseases by Deep Sequencing of Linked Loci.The Journal of clinical endocrinology and metabolism · 2021Article
- Identification of Novel Genomic-Variant Patterns of OR56A5, OR52L1, and CTSD in Retinitis Pigmentosa Patients by Whole-Exome Sequencing.International journal of molecular sciences · 2021Article
- Association of CDKAL1 Polymorphisms with Early-Onset Atopic Dermatitis in Koreans.Annals of dermatology · 2018Article
- GREB1 genetic variants are associated with bone mineral density in Caucasians.Journal of bone and mineral metabolism · 2018Article
- Evaluation of Gene-Based Family-Based Methods to Detect Novel Genes Associated With Familial Late Onset Alzheimer Disease.Frontiers in neuroscience · 2018Article
- Identification of novel candidate variants including COL6A6 polymorphisms in early-onset atopic dermatitis using whole-exome sequencing.BMC medical genetics · 2017Article
- Transmission and decorrelation methods for detecting rare variants using sequencing data from related individuals.BMC proceedings · 2016Article
- Permutation testing in the presence of polygenic variation.Genetic epidemiology · 2015Article
- Statistical methods for genome-wide and sequencing association studies of complex traits in related samples.Current protocols in human genetics · 2015Review
- Impact of Population Stratification on Family-Based Association in an Admixed Population.International journal of genomics · 2015Article
- Adjusting family relatedness in data-driven burden test of rare variants.Genetic epidemiology · 2014Article
- Robust rare variant association testing for quantitative traits in samples with related individuals.Genetic epidemiology · 2014Article
- Integrative cancer epidemiology--the next generation.Cancer discovery · 2012Article
- Lessons learned from Genetic Analysis Workshop 17: transitioning from genome-wide association studies to whole-genome statistical genetic analysis.Genetic epidemiology · 2011Article
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Authors and funding
2 authors.
Funding
Abstract
Genotyping of rare variants on a large scale is now possible using next-generation sequencing. Sample selection is a crucial step in designing the genetic study of a complex disease, and knowledge of the efficiency and limitations of population-based and family-based designs can help researchers make the appropriate choice. The nine contributions to Group 5 of Genetic Analysis Workshop 17 evaluate population-based and family-based designs by comparing the results obtained with various methods applied to the mini-exome simulations. These simulations consisted of 200 replicates composed of unrelated individuals and eight extended pedigrees with genotypes and various phenotypes. The methods tested for association with a population-based and/or a family-based design, tested for linkage with a family-based design, or estimated heritability. We summarize the strengths and weaknesses of both designs. Although population-based designs seem more suitable for detecting the effect of multiple rare variants, family-based designs can potentially enrich the sample in rare variants, for which the effect would be concealed at the population level. However, as of today, the main limitation is still the high cost of next-generation sequencing.
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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 Socratic graph.