diff --git a/README.md b/README.md new file mode 100644 index 0000000..a0034ae --- /dev/null +++ b/README.md @@ -0,0 +1,48 @@ +## Getting Started +```sh +git clone https://gitlab.com/lh3/minimap2 +cd minimap2 && make +# long reads against a reference genome +./minimap2 -ax map10k test/MT-human.fa test/MT-orang.fa > test.sam +# create an index first and then map +./minimap2 -x map10k -d MT-human.mmi test/MT-human.fa +./minimap2 -ax map10k MT-human.mmi test/MT-orang.fa > test.sam +# long-read overlap (no test data) +./minimap2 -x ava10k your-reads.fa your-reads.fa > overlaps.paf +# man page +man ./minimap2.1 +``` + +## Introduction + +Minimap2 is a fast sequence mapping and alignment program that can find +overlaps between long noisy reads, or map long reads or their assemblies to a +reference genome optionally with detailed alignment (i.e. CIGAR). At present, +it works efficiently with query sequences from a few kilobases to ~100 +megabases in length at a error rate ~15%. Minimap2 outputs in the [PAF][paf] or +the [SAM format][sam]. On limited test data sets, minimap2 is over 20 times +faster than most other long-read aligners. + +Minimap2 is the successor of [minimap][minimap]. It uses a similar +minimizer-based indexing and seeding algorithm, and improves the original +minimap with homopolyer-compressed k-mers (see also [SMARTdenovo][smartdenovo] +and [longISLND][longislnd]), better chaining and fast extension alignment (see +also [libgaba][gaba] and [ksw2][ksw2]). + +## Limitations + +At the alignment phase, minimap2 performs global alignments between minimizer +hits. If the positions of these minimizer hits are incorrect, the final alignment +may be suboptimal or broken due to the Z-drop heuristics. In addition, in the +event of a long insertion/deletion, minimap2 may split the long event into +a few smaller events. We will address these issues in future. + +Minimap2 does not work well with Illumina short reads as of now. + +[paf]: https://github.com/lh3/miniasm/blob/master/PAF.md +[sam]: https://samtools.github.io/hts-specs/SAMv1.pdf +[minimap]: https://github.com/lh3/minimap +[smartdenovo]: https://github.com/ruanjue/smartdenovo +[longislnd]: https://www.ncbi.nlm.nih.gov/pubmed/27667791 +[gaba]: https://github.com/ocxtal/libgaba +[ksw2]: https://github.com/lh3/ksw2