1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
49
50
51
52
53
54
55
56
57
58
59
60
61
62
63
64
65
66
67
68
69
70
71
72
73
74
75
76
77
78
79
80
81
82
83
84
85
|
# Minimac4
Minimac4 is a lower memory and more computationally efficient
implementation of the genotype imputation algorithms in
minimac/mininac2/minimac3.
## Installation
A prebuilt Linux x86 executable is available at https://github.com/statgen/Minimac4/releases/latest by downloading and running minimac4-{version}-Linux-x86_64.sh. Alternativbely, you can build from source.
## Prerequisites for building from source
Minimac4 requires GCC >= v5 or a compiler with full C++11 support. Automatic installation of Minimac4 requires [cget](http://cget.readthedocs.io/en/latest/src/intro.html#installing-cget) and CMake >= v3.2.
## Building from source
The simplest way to build the latest Minimac4 and its dependencies is to use cget:
```bash
cget install --prefix <install_prefix> statgen/Minimac4
```
Alternatively, you can build manually:
```bash
cd Minimac4
cget install -f ./requirements.txt # Install dependencies locally.
mkdir build && cd build # Create out of source build directory.
cmake -DCMAKE_TOOLCHAIN_FILE=../cget/cget/cget.cmake .. # Configure project with dependency paths.
make # Build.
make install # Install
```
To build and run tests from build directory:
```bash
# bcftools is required to run tests
cmake -DCMAKE_TOOLCHAIN_FILE=../cget/cget/cget.cmake -DBUILD_TESTS=ON ..
make
make CTEST_OUTPUT_ON_FAILURE=1 test
```
Since some users have reported issues with installing cget with pip, a cmake-only alternative for installing dependencies is available:
```shell
cmake -P dependencies.cmake deps/
mkdir build; cd build
cmake -DCMAKE_PREFIX_PATH=$(pwd)/../deps/ -DCMAKE_CXX_FLAGS="-I$(pwd)/../deps/include" ..
make
make install
```
## Usage
See `minimac4 --help` for detailed usage.
A typical Minimac4 command line for imputation is as follows
```bash
minimac4 reference.msav target.vcf.gz > imputed.sav
```
Here reference.msav is a reference panel (e.g. [1000 Genomes download](ftp://share.sph.umich.edu/minimac4/panels/g1k_p3_msav_files_with_estimates.tar.gz)) compressed with MVCF encoding,
target.vcf.gz is an indexed VCF containing phased genotype array data,
and imputed.sav is the imputed output.
The file formats VCF, [BCF](https://github.com/samtools/bcftools), and [SAV](https://github.com/statgen/savvy) are supported for both input and output:
```bash
minimac4 reference.msav target.bcf -o imputed.bcf
minimac4 reference.msav target.vcf.gz -o imputed.vcf.gz
```
A sites-only file can be generated with:
```bash
minimac4 reference.msav target.bcf -o imputed.sav -s imputed.sites.vcf.gz
```
Meta-imputation with MetaMinimac2 requires `--empirical-output` (or `-e`) to be specified:
```bash
minimac4 reference.msav target.bcf -o imputed.dose.sav -e imputed.empirical_dose.sav
```
## Reference Panel Creation
If an M3VCF file is already available, it can be converted to the new MVCF format with:
```
minimac4 --update-m3vcf reference.m3vcf.gz > reference.msav
```
Otherwise, phased VCFs containing the reference haplotypes can be compressed into an MVCF with:
```
minimac4 --compress-reference reference.{sav,bcf,vcf.gz} > reference.msav
```
|
