Frith Martin C, Mitsuhashi Satomi, Katoh Kazutaka
Artificial Intelligence Research Center, AIST, Tokyo, Japan.
Graduate School of Frontier Sciences, University of Tokyo, Chiba, Japan.
Methods Mol Biol. 2021;2231:135-145. doi: 10.1007/978-1-0716-1036-7_9.
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.
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。