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Improving the Power of Structural Variation Detection by Augmenting the Reference

The uses of the Genome Reference Consortium’s human reference sequence can be roughly categorized into three related but distinct categories: as a representative species genome, as a coordinate system for identifying variants, and as an alignment reference for variation detection algorithms. However...

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Detalles Bibliográficos
Autores principales: Schröder, Jan, Girirajan, Santhosh, Papenfuss, Anthony T., Medvedev, Paul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4556445/
https://www.ncbi.nlm.nih.gov/pubmed/26322511
http://dx.doi.org/10.1371/journal.pone.0136771