upadate man-page and readme

This commit is contained in:
Haoyu Cheng
2020-01-04 11:54:08 +08:00
parent 1e46798bfb
commit d8416873f3
7 changed files with 407 additions and 176 deletions
+23 -9
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@@ -17,25 +17,24 @@ The input of hifiasm is the PacBio Hifi reads in fasta/fastq format, and its
outputs consist of:
1. Haplotype-resolved raw [unitig][unitig] graph in [GFA][gfa] format
(hifiasm.asm.r\_utg.gfa by default).
(hifiasm.asm.r\_utg.gfa by default). This graph keeps all haplotype information
2. Haplotype-resolved processed [unitig][unitig] graph in [GFA][gfa] format
without small bubbles (hifiasm.asm.p\_utg.gfa by default). Small bubbles
might be caused by somatic mutations, which are useless for some
applications.
without small bubbles (hifiasm.asm.p\_utg.gfa by default). Small bubbles might be
caused by somatic mutations or noise in data, which are not the real haplotype information.
3. Primary assembly [contig][unitig] graph in [GFA][gfa] format
(hifiasm.asm.p\_ctg.gfa by default).
4. Alternate assembly [contig][unitig] graph in [GFA][gfa] format
(hifiasm.asm.a\_ctg.gfa by default).
5. Haplotype-aware error corrected reads in fasta format (hifiasm.asm.ec.fa by
default).
6. All-to-all overlaps in [paf][paf] format (hifiasm.asm.paf).
6. All-to-all overlaps in [paf][paf] format (hifiasm.asm.ovlp.paf).
So far hifiasm is still in early development stage, it will output phased
chromosome-level high-quality assembly in the near future. In addition, hifiasm
also outputs three binary files that save all overlap inforamtion
(hifiasm.asm.ovlp, hifiasm.asm.ovlp.source, hifiasm.asm.ovlp.reverse in default). With these files, hifiasm can avoid the time-consuming all-to-all overlap calculation step, and do the assembly
directly and quickly. This might be helpful when you want to get an optimized
assembly by multiple round of experiments with different parameters.
assembly by multiple rounds of experiments with different parameters.
Hifiasm is a standalone and lightweight assembler, which does not need external
libraries (except zlib). For large genomes, it can generate high-quality
@@ -52,6 +51,18 @@ assembly in a few hours. Hifiasm has been tested on the following datasets:
[2] CHM13 is a homozygous sample, so that unitig N50 makes no sense.
[3] Butterfly has high heterozygous rate, so that most chromosomes have been fully separated into two haplotypes. In this case, contig N50 makes no sense.<sub>
Note that different species need different assembly graphs. For homozygous genomes,
the primary assembly contig graph is the best choice.
For species with high heterozygous rate, different haplotypes can be fully separated.
It is important to remove small bubbles from the haplotype-resolved unitig graph. The
reason is that there are some somatic mutations or noise in data, which are not
the real haplotype information. In this case, haplotype-resolved processed unitig graph
without small bubbles should be better.
For ordinary human genome, different haplotypes cannot be fully separated due to the low
heterozygous rate. There are many small bubbles including haplotype information,
which cannot be simply removed. Thus, it is necessary to use the haplotype-resolved raw
unitig graph. **Hifiasm will generate a universal haplotype contig graph for all species in the near future.**
## Usage
For Hifi reads assembly, a typical command line looks like:
@@ -92,8 +103,11 @@ have further questions, please raise an issue at the issue page.
1. For genome with low heterozygous rate, hifiasm only outputs
haplotype-resolved assembly graph, instead of the phased chromosome-level
assembly (will support such output in the near future).
assembly (**will support such output in the near future**).
2. The running time and memory usage should be further reduced.
2. For different species, hifiasm outputs different assembly graphs, which are not easy to use.
**Hifiasm will generate a universal haplotype contig graph for all species in the near future.**
3. The N50 should be further improved.
3. The running time and memory usage should be further reduced.
4. The N50 should be further improved.