One Size Doesn't Fit All - RefEditor: Building Personalized Diploid Reference Genome to Improve Read Mapping and Genotype Calling in Next Generation Sequencing Studies.

With rapid decline of the sequencing cost, researchers today rush to embrace whole genome sequencing (WGS), or whole exome sequencing (WES) approach as the next powerful tool for relating genetic variants to human diseases and phenotypes. A fundamental step in analyzing WGS and WES data is mapping s...

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Bibliographic Details
Main Authors: Shuai Yuan, H Richard Johnston, Guosheng Zhang, Yun Li, Yi-Juan Hu, Zhaohui S Qin
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-08-01
Series:PLoS Computational Biology
Online Access:http://europepmc.org/articles/PMC4534450?pdf=render