生物
人类基因组
基因组
计算生物学
端粒
单倍型
倍性
顺序装配
遗传学
计算机科学
DNA
基因
等位基因
基因表达
转录组
作者
Andrey V Bzikadze,Alla Mikheenko,Pavel A Pevzner
标识
DOI:10.1101/gr.276871.122
摘要
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.
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