HapCUT2: A Method for Phasing Genomes Using Experimental Sequence Data.
HapCUT2: A Method for Phasing Genomes Using Experimental Sequence Data.
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HapCUT2：一种使用实验序列数据对基因组进行定相的方法。
DOI：
10.1007/978-1-0716-2819-5_9
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发表时间：
2023
期刊：
影响因子：
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通讯作者：
Bansal,Vikas
中科院分区：
文献类型：
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作者：
Bansal,Vikas
高通量DNA测序技术的快速发展使得从全基因组测序（WGS）数据集中发现变异成为可能；然而，将染色体上的变异连接成单倍型，也称为单倍型相位，仍然很困难。人类基因组是二倍体，单倍型的分型对于遗传变异的完整解释和分析至关重要。Hapcut2 （https://github.com/vibansal/HapCUT2）是一款利用不同测序技术和实验方法产生的序列数据进行二倍体基因组分相的开源软件。在本文中，我们概述了Hapcut2使用的算法，并描述了如何使用不同类型的序列数据使用Hapcut2进行单个基因组的单倍型相位。
Rapid advances in high-throughput DNA sequencing technologies have enabled variant discovery from whole-genome sequencing (WGS) datasets; however linking variants on a chromosome together into haplotypes, also known as haplotype phasing, remains difficult. Human genomes are diploid and haplotype phasing is crucial for the complete interpretation and analysis of genetic variation.Hapcut2 (https://github.com/vibansal/HapCUT2) is an open-source software for phasing diploid genomes using sequence data generated using different sequencing technologies and experimental methods. In this article, we give an overview of the algorithm used by Hapcut2 and describe how to use Hapcut2 for haplotype phasing of individual genomes using different types of sequence data.