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拉马组装:长读段的多重比对和一致序列

lamassemble: Multiple Alignment and Consensus Sequence of Long Reads.

作者信息

Frith Martin C, Mitsuhashi Satomi, Katoh Kazutaka

机构信息

Artificial Intelligence Research Center, AIST, Tokyo, Japan.

Graduate School of Frontier Sciences, University of Tokyo, Chiba, Japan.

出版信息

Methods Mol Biol. 2021;2231:135-145. doi: 10.1007/978-1-0716-1036-7_9.

Abstract

Long DNA and RNA reads from nanopore and PacBio technologies have many applications, but the raw reads have a substantial error rate. More accurate sequences can be obtained by merging multiple reads from overlapping parts of the same sequence. lamassemble aligns up to ∼1000 reads to each other, and makes a consensus sequence, which is often much more accurate than the raw reads. It is useful for studying a region of interest such as an expanded tandem repeat or other disease-causing mutation.

摘要

来自纳米孔和PacBio技术的长DNA和RNA reads有许多应用,但原始reads有相当高的错误率。通过合并来自同一序列重叠部分的多个reads,可以获得更准确的序列。lamassemble将多达约1000条reads相互比对,并生成一个共有序列,该序列通常比原始reads准确得多。它对于研究感兴趣的区域,如扩展的串联重复序列或其他致病突变很有用。

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