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- W2122064784 abstract "Advances in the fabrication of DNA microarrays as well as transformations in detection chemistries have vastly increased the throughput for genotyping, DNA sequencing, and array-based copy number analysis (ABCNA). Rapid changes in technology are not only affecting research but also revolutionizing DNA diagnostics. Here we focus on the application of high-throughput ABCNA and genotyping. Targeted and genome-wide ABCNA has led to the discovery of extensive DNA copy number variation in the population and the delineation of many previously unrecognized submicroscopic chromosomal aberrations (genomic disorders). High-throughput single-nucleotide polymorphism (SNP) genotyping is being widely applied in genome-wide association studies (GWASs) with recent successes in identification of common variants that confer risk for common adult diseases. Future applications of high-throughput genotyping and array-based DNA sequencing technology will undoubtedly involve research and diagnostic analyses of rare mutations and perhaps ultimately enable full individual genome sequencing." @default.
- W2122064784 created "2016-06-24" @default.
- W2122064784 creator A5047263678 @default.
- W2122064784 creator A5074963804 @default.
- W2122064784 date "2008-02-01" @default.
- W2122064784 modified "2023-10-15" @default.
- W2122064784 title "Array-Based DNA Diagnostics: Let the Revolution Begin" @default.
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- W2122064784 doi "https://doi.org/10.1146/annurev.med.59.012907.101800" @default.
- W2122064784 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17961075" @default.
- W2122064784 hasPublicationYear "2008" @default.
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