Understanding the Basics of NGS: From Mechanism to Variant Calling View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2015-12

AUTHORS

Dale Muzzey, Eric A. Evans, Caroline Lieber

ABSTRACT

Identifying disease-causing mutations in DNA has long been the goal of genetic medicine. In the last decade, the toolkit for discovering DNA variants has undergone rapid evolution: mutations that were historically discovered by analog approaches like Sanger sequencing and multiplex ligation-dependent probe amplification ("MLPA") can now be decoded from a digital signal with next-generation sequencing ("NGS"). Given the explosive growth of NGS-based tests in the clinic, it is of the utmost importance that medical practitioners have a fundamental understanding of the newest NGS methodologies. To that end, here we provide a very basic overview of how NGS works, with particular emphasis on the close resemblance between the underlying chemistry of Sanger sequencing and NGS. Using a pair of simple analogies, we develop an intuitive framework for understanding how high-confidence detection of single-nucleotide polymorphisms, indels, and large deletions/duplications is possible with NGS alone. More... »

PAGES

158-165

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s40142-015-0076-8

DOI

http://dx.doi.org/10.1007/s40142-015-0076-8

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1024746705

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/26566462


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