One reference genome is not enough

Xiaofei Yang; Wan-Ping Lee; Kai Ye; Charles Lee

doi:10.1186/s13059-019-1717-0

One reference genome is not enough

Genome Biol. 2019 May 24;20(1):104. doi: 10.1186/s13059-019-1717-0.

Authors

Xiaofei Yang^{1

2

3}, Wan-Ping Lee^{2

3

4}, Kai Ye^{2

5}, Charles Lee^{6

7

8}

Affiliations

¹ Department of Computer Science and Technology, School of Electronic and Information Engineering, Xi'an Jiaotong University, Xi'an, 710049, China.
² MOE Key Lab for Intelligent Networks & Networks Security, School of Electronics and Information Engineering, Xi'an Jiaotong University, Xi'an, 710049, China.
³ The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA.
⁴ Precision Medicine Center, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, 710061, China.
⁵ Genome Institute, First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, 710061, China.
⁶ The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA. Charles.Lee@jax.org.
⁷ Precision Medicine Center, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, 710061, China. Charles.Lee@jax.org.
⁸ Department of Life Sciences, Ewha Womans University, Seoul, 03760, South Korea. Charles.Lee@jax.org.

Abstract

A recent study on human structural variation indicates insufficiencies and errors in the human reference genome, GRCh38, and argues for the construction of a human pan-genome.

Publication types

Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Genome, Human*
Genomic Structural Variation
Genomics / standards
Humans
Reference Standards

Abstract

Publication types

MeSH terms

Grants and funding