Survey of computational haplotype determination methods for single individual

被引:0
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作者
Je-Keun Rhee
Honglan Li
Je-Gun Joung
Kyu-Baek Hwang
Byoung-Tak Zhang
Soo-Yong Shin
机构
[1] The Catholic University of Korea,Department of Medical Informatics, College of Medicine
[2] Soongsil University,School of Computer Science and Engineering
[3] Samsung Medical Center,Translational Bioinformatics Lab., Samsung Genome Institute
[4] Seoul National University,School of Computer Science and Engineering
[5] Asan Medical Center,Department of Biomedical Informatics
来源
Genes & Genomics | 2016年 / 38卷
关键词
Haplotype determination; Next-generation sequencing; Computational genomics;
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中图分类号
学科分类号
摘要
Genome-wide association studies have expanded our understanding of the relationship between the human genome and disease. However, because of current technical limitations, it is still challenging to clearly resolve diploid sequences, that is, two copies for each chromosome. One copy of each chromosome is inherited from each parent and the genomic function is determined by the interplay between the alleles represented as genotypes in the diploid sequences. Thus, to understand the nature of genetic variation in biological processes, including disease, it is necessary to determine the complete genomic sequence of each haplotype. Although there are experimental approaches for haplotype sequencing that physically separate the chromosomes, these methods are expensive and laborious and require special equipment. Here, we review the computational approaches that can be used to determine the haplotype phase. Since 1990, many researchers have tried to reconstruct the haplotype phase using a variety of computational methods, and some researches have been successfully help to determine the haplotype phase. In this review, we investigate how the computational haplotype determination methods have been developed, and we present the remaining problems affecting the determination of the haplotype of single individual using next-generation sequencing methods.
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页码:1 / 12
页数:11
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