Leveraging long read sequencing from a single individual to provide a comprehensive resource for benchmarking variant calling methods

A high-confidence, comprehensive human variant set is critical in assessing accuracy of sequencing algorithms, which are crucial in precision medicine based on high-throughput sequencing. Although recent works have attempted to provide such a resource, they still do not encompass all major types of...

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Detalles Bibliográficos
Autores principales: Mu, John C., Tootoonchi Afshar, Pegah, Mohiyuddin, Marghoob, Chen, Xi, Li, Jian, Bani Asadi, Narges, Gerstein, Mark B., Wong, Wing H., Lam, Hugo Y. K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4585973/
https://www.ncbi.nlm.nih.gov/pubmed/26412485
http://dx.doi.org/10.1038/srep14493

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4585973/
https://www.ncbi.nlm.nih.gov/pubmed/26412485
http://dx.doi.org/10.1038/srep14493

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