Understanding the Basics of NGS: From Mechanism to Variant Calling

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-dependen...

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Detalles Bibliográficos
Autores principales: Muzzey, Dale, Evans, Eric A., Lieber, Caroline
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2015
Materias:
Genetic Counseling and Clinical Testing (BS LeRoy & N Callanan, Section Editors)
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4633438/
https://www.ncbi.nlm.nih.gov/pubmed/26566462
http://dx.doi.org/10.1007/s40142-015-0076-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4633438/
https://www.ncbi.nlm.nih.gov/pubmed/26566462
http://dx.doi.org/10.1007/s40142-015-0076-8

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