在太基准尺度上构建和搜索 BWT

Heng Li
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引用次数: 0

摘要

动机Burrows-Wheeler Transform(BWT)是全文索引中的一个常用组件。它最初是为数据压缩而开发的,尤其适用于冗余序列(如泛基因组数据)的编码。然而,BWT 的构建需要大量资源,难以并行化,而且许多查询大型全文索引的方法只能报告精确匹配或其简单扩展。这些局限性阻碍了全文索引在生物学上的应用。结果Ropebwt3 可在 21 小时内为 100 个已组装的人类基因组建立索引,并在 26 天内为 7.3 个常用细菌组装数据库建立索引。Ropebwt3 可以在仿射校正条件下找到最大精确匹配和不精确排列,并能检索与查询序列匹配的所有不同的局部单倍型。它证明了全文索引在大型数据库中的可行性。可用性和实现:https://github.com/lh3/ropebwt3
本文章由计算机程序翻译,如有差异,请以英文原文为准。
BWT construction and search at the terabase scale
Motivation: Burrows-Wheeler Transform (BWT) is a common component in full-text indices. Initially developed for data compression, it is particularly powerful for encoding redundant sequences such as pangenome data. However, BWT construction is resource intensive and hard to be parallelized, and many methods for querying large full-text indices only report exact matches or their simple extensions. These limitations have hampered the biological applications of full-text indices. Results: We developed ropebwt3 for efficient BWT construction and query. Ropebwt3 could index 100 assembled human genomes in 21 hours and index 7.3 terabases of commonly studied bacterial assemblies in 26 days. This was achieved using 82 gigabytes of memory at the peak without working disk space. Ropebwt3 can find maximal exact matches and inexact alignments under affine-gap penalties, and can retrieve all distinct local haplotypes matching a query sequence. It demonstrates the feasibility of full-text indexing at the terabase scale. Availability and implementation: https://github.com/lh3/ropebwt3
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