ArticleAmerican journal of human genetics2007
A Bayesian approach to copy-number-polymorphism analysis in nuclear pedigrees.
Article in American journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 15 citations in OpenAlex.
- Polymorphisms in α-Defensin-Encoding DEFA1A3 Associate with Urinary Tract Infection Risk in Children with Vesicoureteral Reflux.Journal of the American Society of Nephrology : JASN · 2016Article
- qKAT: a high-throughput qPCR method for KIR gene copy number and haplotype determination.Genome medicine · 2016Article
- Copy number variation burden on asthma subgenome in normal cohorts identifies susceptibility markers.Allergy, asthma & immunology research · 2015Article
- A stochastic inference of de novo CNV detection and association test in multiplex schizophrenia families.Frontiers in genetics · 2013Article
- Inheritance model introduces differential bias in CNV calls between parents and offspring.Genetic epidemiology · 2012Article
- Reconstructing CNV genotypes using segregation analysis: combining pedigree information with CNV assay.Genetics, selection, evolution : GSE · 2010Article
- Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis.Genomics · 2009Review
- Modeling genetic inheritance of copy number variations.Nucleic acids research · 2008Article
- Hidden copy number variation in the HapMap population.Proceedings of the National Academy of Sciences of the United States of America · 2008Article
- Detection, imputation, and association analysis of small deletions and null alleles on oligonucleotide arrays.American journal of human genetics · 2008Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
Segmental copy-number polymorphisms (CNPs) represent a significant component of human genetic variation and are likely to contribute to disease susceptibility. These potentially multiallelic and highly polymorphic systems present new challenges to family-based genetic-analysis tools that commonly assume codominant markers and allow for no genotyping error. The copy-number quantitation (CNP phenotype) represents the total number of segmental copies present in an individual and provides a means to infer, rather than to observe, the underlying allele segregation. We present an integrated approach to meet these challenges, in the form of a graphical model in which we infer the underlying CNP phenotype from the (single or replicate) quantitative measure within the analysis while assuming an allele-based system segregating through the pedigree. This approach can be readily applied to the study of any form of genetic measure, and the construction permits extension to a wide variety of hypothesis tests. We have implemented the basic model for use with nuclear families, and we illustrate its application through an analysis of the CNP located in gene CCL3L1 in 201 families with asthma.
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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.