Performance of High-Throughput Sequencing for the Discovery of Genetic Variation Across the Complete Size Spectrum

We observed that current high-throughput sequencing approaches only detected a fraction of the full size-spectrum of insertions, deletions, and copy number variants compared with a previously published, Sanger-sequenced human genome. The sensitivity for detection was the lowest in the 100- to 10,000...

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Detalles Bibliográficos
Autores principales: Pang, Andy Wing Chun, MacDonald, Jeffrey R., Yuen, Ryan K. C., Hayes, Vanessa M., Scherer, Stephen W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Genetics Society of America 2013
Materias:
Investigations
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3887540/
https://www.ncbi.nlm.nih.gov/pubmed/24192839
http://dx.doi.org/10.1534/g3.113.008797

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3887540/
https://www.ncbi.nlm.nih.gov/pubmed/24192839
http://dx.doi.org/10.1534/g3.113.008797

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