High throughput detection of small genomic insertions or deletions by Pyrosequencing View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2003-10

AUTHORS

Dong-chuan Guo, Yuhua Qi, Rumin He, Prateek Gupta, Dianna M. Milewicz

ABSTRACT

Small insertions or deletions of nucleotides are common polymorphic variations in the human genome and can result in a predisposition to disease. However, high throughput methods for detecting these variations are limited. This report describes a method to detect this variation based on sequencing the boundaries of nucleotide alterations using the Pyrosequencing technique. This method can optimally detect up to 100 base pair nucleotide insertions and deletions, and also complicated genomic rearrangements. More... »

PAGES

1703-1707

Identifiers

URI

http://scigraph.springernature.com/pub.10.1023/a:1026090218031

DOI

http://dx.doi.org/10.1023/a:1026090218031

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1017053676

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/14626411


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