Similarities and differences between variants called with human reference genome HG19 or HG38

Similarities and differences between variants called with human reference genome HG19 or HG38

Abstract Background Reference genome selection is a prerequisite for successful analysis of next generation sequencing (NGS) data. Current practice employs one of the two most recent human reference genome versions: HG19 or HG38. To date, the impact of genome version on SNV identification has not be...

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Bibliographic Details
Main Authors: Bohu Pan, Rebecca Kusko, Wenming Xiao, Yuanting Zheng, Zhichao Liu, Chunlin Xiao, Sugunadevi Sakkiah, Wenjing Guo, Ping Gong, Chaoyang Zhang, Weigong Ge, Leming Shi, Weida Tong, Huixiao Hong
Format: Article
Language:English
Published: BMC 2019-03-01
Series:BMC Bioinformatics
Subjects:
Next generation sequencing
Human reference genomes
SNV
Calling pipeline comparison
Online Access:http://link.springer.com/article/10.1186/s12859-019-2620-0

Internet

http://link.springer.com/article/10.1186/s12859-019-2620-0

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