About: Multiplexed Genetic Analysis Using an Expanded Genetic Alphabet

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An Entity of Type : schema:ScholarlyArticle, within Data Space : covidontheweb.inria.fr associated with source document(s)

Attributes	Values
type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
has title	Multiplexed Genetic Analysis Using an Expanded Genetic Alphabet
Creator	Johnson, Scott Harms, Gerda Madsen, Gary Hoffman, Gary Benner, Steven Beaty, Edward Farrell, Philip Kopish, Greg Laessig, Ronald Lederer, Scott Marshall, David Miller, Christie Prudent, James Roesch, Eric Sherrill, Christopher Wang Baker, Mei
Source	PMC
abstract	BACKGROUND: All states require some kind of testing for newborns, but the policies are far from standardized. In some states, newborn screening may include genetic tests for a wide range of targets, but the costs and complexities of the newer genetic tests inhibit expansion of newborn screening. We describe the development and technical evaluation of a multiplex platform that may foster increased newborn genetic screening. METHODS: MultiCode(®) PLx involves three major steps: PCR, target-specific extension, and liquid chip decoding. Each step is performed in the same reaction vessel, and the test is completed in ~3 h. For site-specific labeling and room-temperature decoding, we use an additional base pair constructed from isoguanosine and isocytidine. We used the method to test for mutations within the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The developed test was performed manually and by automated liquid handling. Initially, 225 samples with a range of genotypes were tested retrospectively with the method. A prospective study used samples from >400 newborns. RESULTS: In the retrospective study, 99.1% of samples were correctly genotyped with no incorrect calls made. In the perspective study, 95% of the samples were correctly genotyped for all targets, and there were no incorrect calls. CONCLUSIONS: The unique genetic multiplexing platform was successfully able to test for 31 targets within the CFTR gene and provides accurate genotype assignments in a clinical setting.
has issue date	2004-11-01(xsd:dateTime)
bibo:doi	10.1373/clinchem.2004.034330
bibo:pmid	15319316
has license	bronze-oa
sha1sum (hex)	315e5980d6fdce4553a9df8c0e36e55ffed32365
schema:url	https://doi.org/10.1373/clinchem.2004.034330
resource representing a document's title	Multiplexed Genetic Analysis Using an Expanded Genetic Alphabet
has PubMed Central identifier	PMC1592527
has PubMed identifier	15319316
schema:publication	Clinical Chemistry
resource representing a document's body	covid:315e5980d6fdce4553a9df8c0e36e55ffed32365#body_text
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