|
1 |
| -## Build |
2 |
| -install htslib 1.17 |
3 |
| -make |
| 1 | +Minimap2_index_modifier |
| 2 | +======================= |
| 3 | +Minimap2_index_modifier is a fork of alignment tool [minimap2](https://github.com/lh3/minimap2). |
| 4 | +Unlike the original tool, this can use the variants defined in the VCF file when generating the index, for more accurate alignment. |
4 | 5 |
|
5 |
| -## Make gz and gz.tbi from VCF |
6 |
| -bgzip -c filename.vcf > filename.vcf.gz\ |
7 |
| -tabix -p vcf filename.vcf.gz |
8 | 6 |
|
9 |
| -## Run modified index creation |
10 |
| -bgzip -c test.vcf > test.vcf.gz\ |
11 |
| -tabix -p vcf test.vcf.gz\ |
12 |
| -./minimap2 -d test/test.modified.mni --vcf-file-with-variants test/test_long_chr1.vcf.gz test/test.fasta |
| 7 | +Minimap2_index_modifier can be used in the same way as the original minimap2. |
| 8 | +To create a modified index use additional parameter `--vcf-file-with-variants <vcf-file>`. |
| 9 | +```bash |
| 10 | +minimap2 -d index.mmi --vcf-file-with-variants input.vcf.gz reference.fasta |
| 11 | +``` |
13 | 12 |
|
14 |
| -Use flag --parse-haplotype if your VCF contains phased haplotypes |
| 13 | +Use flag `--parse-haplotype` if your VCF contains phased haplotypes. |
15 | 14 |
|
16 |
| -## Run test |
| 15 | +## Contents |
| 16 | +* [Installation](#installation) |
| 17 | + * [Compiling from source](#compiling-from-source) |
| 18 | + * [Docker](#docker) |
| 19 | +* [Pre-built indexes](#pre-built-indexes) |
| 20 | +* [Tests](#tests) |
17 | 21 |
|
18 |
| -### Empty test |
19 |
| -./minimap2 -d test/test.mni test/test.fasta\ |
20 |
| -./minimap2 -d test/test.modified.mni --vcf-file-with-variants test/empty.vcf.gz test/test.fasta\ |
21 |
| -diff test/test.mni test/test.modified.mni |
| 22 | +## Installation |
| 23 | +### Compiling from source |
| 24 | +To compile from source, use this version of tools: |
22 | 25 |
|
| 26 | +* GCC/G++ 11.4.0+ |
| 27 | +* HTSlib v1.17 |
23 | 28 |
|
24 |
| -### The same test |
25 |
| -./minimap2 -d test/test.mni test/test.fasta\ |
26 |
| -./minimap2 -d test/test.modified.mni --vcf-file-with-variants test/test_long_chr1_the_same.vcf.gz test/test.fasta\ |
27 |
| -diff test/test.mni test/test.modified.mni |
| 29 | +Command to compile: |
| 30 | +```bash |
| 31 | +cd minimap2_index_modifier && make |
| 32 | +``` |
| 33 | + |
| 34 | +### Docker |
| 35 | +Clone this repository and build a Docker image as follows. |
| 36 | +```bash |
| 37 | +docker build -t minimap2_index_modifier:2.24 . |
| 38 | +``` |
| 39 | + |
| 40 | +## Pre-built indexes |
| 41 | +This [link](https://nextcloud.ispras.ru/index.php/s/wcb9PpZyr8Gb5CC) contains pre-built modified indexes for next references: |
| 42 | +* GRCh38 [(GCA_000001405.15)](https://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/release/references/GRCh38/) |
| 43 | +* GRCh37 [(hs37d5)](https://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/release/references/GRCh37/) |
| 44 | + |
| 45 | +## Tests |
| 46 | +See [test/tests.md](test/tests.md) for more details. |
28 | 47 |
|
29 |
| -### Not the same test |
30 |
| -./minimap2 -d test/test.mni test/test.fasta\ |
31 |
| -./minimap2 -d test/test.modified.mni --vcf-file-with-variants test/test_long_chr1_not_the_same.vcf.gz test/test.fasta\ |
32 |
| -diff test/test.mni test/test.modified.mni |
|
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