| Applications of whole-genome high-density SNP genotyping. | |
| | |
MedLine Citation:
|
PMID: 15833046 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
The technology to simultaneously genotype hundreds of thousands of single nucleotide polymorphisms in a single assay has only recently been developed. These advances have the potential to revolutionize our ability to identify disease-associated proteins and their corresponding pathways as drugable targets. Several strategies that can take advantage of extremely high-density, genome-wide single nucleotide polymorphism genotyping to hone in on pathogenic genetic variants will be discussed. In familial linkage studies, high-density single nucleotide polymorphism genotyping has already been proven to speed up mutation identification of Mendelian traits several fold. Many studies now report examining loss of heterozygosity and genomic amplifications on a whole-genome level. Genotyping hundreds of thousands of single nucleotide polymorphisms in a single set of assays now also allows for whole-genome association studies in complex, multigenic diseases. The technology of high-density single nucleotide polymorphism genotyping has emerged rapidly, leaving data analysis and bioinformatic challenges only partially met. In this review, the immediate applications and implications of the rapidly changing high-density, whole-genome single nucleotide polymorphism genotyping field on translational research will be described. |
| | |
Authors:
|
David W Craig; Dietrich A Stephan |
Related Documents
:
|
15716906 - Genome-wide association studies for common diseases and complex traits. 16978446 - The endophenotype concept in psychiatric genetics. 16995806 - Molecular genetic studies of gene identification for osteoporosis: a 2004 update. 14644806 - Molecular abnormalities of fsh and lh action. 23369106 - Snpranker 2.0: a gene-centric data mining tool for diseases associated snp prioritizati... 23392276 - A phewas approach in studying hla-drb1*1501. |
Publication Detail:
|
Type: Journal Article; Review |
Journal Detail:
|
Title: Expert review of molecular diagnostics Volume: 5 ISSN: 1473-7159 ISO Abbreviation: Expert Rev. Mol. Diagn. Publication Date: 2005 Mar |
Date Detail:
|
Created Date: 2005-04-18 Completed Date: 2005-07-07 Revised Date: 2005-11-16 |
Medline Journal Info:
|
Nlm Unique ID: 101120777 Medline TA: Expert Rev Mol Diagn Country: England |
Other Details:
|
Languages: eng Pagination: 159-70 Citation Subset: IM |
Affiliation:
|
The Translational Genomics Research Institute, Neurogenomics Division, 445 North Fifth Street, Phoenix, AZ 85004, USA. dcraig@tgen.org |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Genetic Predisposition to Disease* Genome, Human* Humans Linkage Disequilibrium* Loss of Heterozygosity / genetics Polymorphism, Single Nucleotide* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Peptides in body fluids and tissues as markers of disease.
Next Document: Tissue microarrays: applications in genomic research.