ArticleBMC proceedings2014
Two-stage family-based designs for sequencing studies.
Article in BMC proceedings, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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
5 citing papers in PubMed, 1 synthesis or guideline pooled it.
- No association between the Ser9Gly polymorphism of the dopamine receptor D3 gene and schizophrenia: a meta-analysis of family-based association studies.BMC medical genetics · 2020Pooled it
- Genetic tests by next-generation sequencing in children with developmental delay and/or intellectual disability.Clinical and experimental pediatrics · 2020Article
- A meta-analysis of data associatingNeuropsychiatric disease and treatment · 2018Article
- Low-, high-coverage, and two-stage DNA sequencing in the design of the genetic association study.Genetic epidemiology · 2017Article
- Complex pedigrees in the sequencing era: to track transmissions or decorrelate?Genetic epidemiology · 2014Article
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
Abstract
The cost of next-generation sequencing is now approaching that of the first generation of genome-wide single-nucleotide genotyping panels, but this is still out of reach for large-scale epidemiologic studies with tens of thousands of subjects. Furthermore, the anticipated yield of millions of rare variants poses serious challenges for distinguishing causal from noncausal variants for disease. We explore the merits of using family-based designs for sequencing substudies to identify novel variants and prioritize them for their likelihood of causality. While the sharing of variants within families means that family-based designs may be less efficient for discovery than sequencing of a comparable number of unrelated individuals, the ability to exploit cosegregation of variants with disease within families helps distinguish causal from noncausal ones. We introduce a score test criterion for prioritizing discovered variants in terms of their likelihood of being functional. We compare the relative statistical efficiency of 2-stage versus1-stage family-based designs by application to the Genetic Analysis Workshop 18 simulated sequence data.
Identifiers
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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 OpenQuestion graph.