ArticleHuman heredity2011
Two-stage design of sequencing studies for testing association with rare variants.
Article in Human heredity, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 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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Who cites it
5 citing papers in PubMed.
- Low-, high-coverage, and two-stage DNA sequencing in the design of the genetic association study.Genetic epidemiology · 2017Article
- Article
- Two-stage family-based designs for sequencing studies.BMC proceedings · 2014Article
- Two-phase and family-based designs for next-generation sequencing studies.Frontiers in genetics · 2013Review
- Single Nucleotide Polymorphism (SNP) Detection and Genotype Calling from Massively Parallel Sequencing (MPS) Data.Statistics in biosciences · 2013Article
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
Multiple rare variants have been suggested as accounting for some of the associations with common single nucleotide polymorphisms identified in genome-wide association studies or possibly some of the as yet undiscovered heritability. We consider the power of various approaches to designing substudies aimed at using next-generation sequencing technologies to discover novel variants and to select some subsets that are possibly causal for genotyping in the original case-control study and testing for association using various weighted sum indices. We find that the selection of variants based on the statistical significance of the case-control difference in the subsample yields good power for testing rare variant indices in the main study, and that multivariate models including both the summary index of rare variants and the associated common single nucleotide polymorphisms can distinguish which is the causal factor. By simulation, we explore the effects of varying the size of the discovery subsample, choice of index, and true causal model.
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Registered trials
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