端粒
基因组
生物
顺序装配
计算生物学
真核细胞染色体精细结构
染色体
DNA测序
遗传学
DNA
基因
基因表达
转录组
作者
Heng Li,Richard Durbin
出处
期刊:Cornell University - arXiv
日期:2023-01-01
被引量:5
标识
DOI:10.48550/arxiv.2308.07877
摘要
De novo assembly is the process of reconstructing the genome sequence of an organism from sequencing reads. Genome sequences are essential to biology, and assembly has been a central problem in bioinformatics for four decades. Until recently, genomes were typically assembled into fragments of a few megabases at best but technological advances in long-read sequencing now enable near complete chromosome-level assembly, also known as telomere-to-telomere assembly, for many organisms. Here we review recent progress on assembly algorithms and protocols. We focus on how to derive near telomere-to-telomere assemblies and discuss potential future developments.
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