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. Ho...

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Bibliographic Details
Main Authors: Jan Schröder, Santhosh Girirajan, Anthony T Papenfuss, Paul Medvedev
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4556445?pdf=render