Fast and accurate mapping of long reads to complete genome assemblies with VerityMap.
Fast and accurate mapping of long reads to complete genome assemblies with VerityMap.
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DOI：
10.1101/gr.276871.122
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发表时间：
2022-11
期刊：
影响因子：
7
通讯作者：
Pevzner, Pavel A
中科院分区：
文献类型：
--
作者：
Bzikadze, Andrey V;Mikheenko, Alla;Pevzner, Pavel A
长读段测序的最新进展已经使得人类基因组的端粒到端粒（完整）组装成为可能，并且现在有助于多个人类基因组的单体型分辨的完整组装。由于读段作图工具的准确性在高度重复区域中恶化，因此需要开发用于完整组装中的读段作图的准确、错误暴露（检测潜在组装错误）和二倍体感知（区分不同单倍型）工具。我们描述了第一个准确的，错误暴露，部分二倍体感知的VerityMap工具，用于长读映射到完整的程序集。
Recent advancements in long-read sequencing have enabled the telomere-to-telomere (complete) assembly of a human genome and are now contributing to the haplotype-resolved complete assemblies of multiple human genomes. Because the accuracy of read mapping tools deteriorates in highly repetitive regions, there is a need to develop accurate, error-exposing (detecting potential assembly errors), and diploid-aware (distinguishing different haplotypes) tools for read mapping in complete assemblies. We describe the first accurate, error-exposing, and partially diploid-aware VerityMap tool for long-read mapping to complete assemblies.