期刊
COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL
卷 18, 期 -, 页码 66-72出版社
ELSEVIER
DOI: 10.1016/j.csbj.2019.11.011
关键词
Genome assembly; Haplotype phasing; Ploidy; Reference genome; Heterozygo sity
资金
- National Key Research and Development Program of China [2016YFD0100305]
- National Natural Science Foundation of China [31701874]
- Natural Science Found Foundation of Fujian grant [2018J01604]
- State Key Laboratory of Ecological Pest Control for Fujian and Taiwan Crops [SKL2018001]
Diploid genomes consist of two homologous copies of chromosomes with one from each parent while polyploid genomes contain more than two homologous sets of chromosomes. Most of the reference genome assemblies collapsed haplotypes that represent 'mosaic' sequences, ignoring allelic variants that may be involved in important cellular and biological functions. Unzipping haplotypes into distinct sets of sequences has been a growing trend in recent genome studies, as it is an essential tool towards resolving important clinical and biological questions, such as compound heterozygotes, heterosis, and evolution. Herein, we review existing methods for alignment-based and assembly-based haplotype phasing for heterozygous diploid and polyploid genomes, as well as recent advances of experimental approaches for improved genome phasing. We anticipate that full haplotype phasing could become a routine procedure in genome studies in the near future. (C) 2019 The Authors. Published by Elsevier B.V. on behalf of Research Network of Computational and Structural Biotechnology.
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