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preparing for releast v1.2: update docs and up toml to 1.2
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biona001 committed Jun 8, 2021
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6 changes: 2 additions & 4 deletions Project.toml
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Expand Up @@ -2,7 +2,7 @@ name = "MendelImpute"
uuid = "e47305d1-6a61-5370-bc5d-77554d143183"
keywords = ["Imputation"]
authors = ["Benjamin Chu <[email protected]>", "Eric Sobel <[email protected]>", "Hua Zhou <[email protected]>"]
version = "1.1.0"
version = "1.2.0"

[deps]
BGEN = "6db4b851-9beb-4b83-9d64-eb1cfb37721d"
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[extras]
BenchmarkTools = "6e4b80f9-dd63-53aa-95a3-0cdb28fa8baf"
CSV = "336ed68f-0bac-5ca0-87d4-7b16caf5d00b"
DataFrames = "a93c6f00-e57d-5684-b7b6-d8193f3e46c0"
Statistics = "10745b16-79ce-11e8-11f9-7d13ad32a3b2"
Test = "8dfed614-e22c-5e08-85e1-65c5234f0b40"

[targets]
test = ["Test", "CSV", "BenchmarkTools", "Statistics", "DataFrames"]
test = ["Test", "BenchmarkTools", "Statistics"]
2 changes: 1 addition & 1 deletion docs/src/index.md
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Expand Up @@ -10,7 +10,7 @@ Given a target genotype file (phased or unphased and may contain missing data) a

- Phasing and imputation with respect to a reference haplotype panel
- Imputation on dosage data, phasing without imputation, imputation without phasing
- Built-in support for [VCF](https://samtools.github.io/hts-specs/VCFv4.3.pdf) (`.vcf`, `.vcf.gz`), [PLINK](https://www.cog-genomics.org/plink2/formats#bed), and [BGEN](https://www.well.ox.ac.uk/~gav/bgen_format/) (`.bgen`, currently experimental) files
- Built-in support for [VCF](https://samtools.github.io/hts-specs/VCFv4.3.pdf) (`.vcf`, `.vcf.gz`), [binary PLINK](https://www.cog-genomics.org/plink2/formats#bed) (`.bed/.bim/.fam`), and [BGEN](https://www.well.ox.ac.uk/~gav/bgen_format/) (`.bgen`) files
- Out-of-the-box multithreaded (shared memory) parallelism.
- Admixture estimation, with code examples to make pretty plots!
- Ultra-compressed file for phased genotypes.
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8 changes: 4 additions & 4 deletions docs/src/man/Phasing_and_Imputation.ipynb
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Expand Up @@ -6,10 +6,11 @@
"source": [
"# Preparing Target Data\n",
"\n",
"MendelImpute accepts [VCF](https://samtools.github.io/hts-specs/VCFv4.3.pdf) and [PLINK (.bed/.bim/.fam)](https://www.cog-genomics.org/plink2/formats#bed), and [BGEN](https://www.well.ox.ac.uk/~gav/bgen_format/) files. Please make sure the following are true:\n",
"MendelImpute accepts [VCF](https://samtools.github.io/hts-specs/VCFv4.3.pdf), [PLINK (.bed/.bim/.fam)](https://www.cog-genomics.org/plink2/formats#bed), and [BGEN](https://www.well.ox.ac.uk/~gav/bgen_format/) files. Please make sure the following are true:\n",
"\n",
"+ VCF file ends in `.vcf` or `.vcf.gz` (phased or unphased and may contain missing data)\n",
"+ BGEN file ends in `.bgen` (if used to store haplotypes, all variants must be phased and non-missing). \n",
"+ Missing data is allowed. Genotypes does not have to be phased. \n",
"+ VCF file ends in `.vcf` or `.vcf.gz`\n",
"+ BGEN file ends in `.bgen`. If available, index files should have the same prefix. (e.g. `genotypes.bgen` should have index file called `genotypes.bgen.bgi`. Sample identifiers may be either contained in the `.bgen` file or listed in an external `genotypes.sample` file.\n",
"+ For PLINK files, all trios (`.bim`, `.bed`, `.fam`) are present in the same directory\n",
"+ Each file contains only 1 (non-sex) chromosome\n",
"+ Every record (SNP) in the imputation target is present in the reference panel. If this is untrue, you must [match markers in 2 VCF files](https://openmendel.github.io/VCFTools.jl/dev/man/conformgt/). \n",
Expand All @@ -22,7 +23,6 @@
"metadata": {},
"source": [
" !!! note\n",
"\n",
"Currently only BGEN inputs support index files. Indexing support for VCF files coming soon..."
]
},
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8 changes: 4 additions & 4 deletions docs/src/man/Phasing_and_Imputation.md
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@@ -1,18 +1,18 @@

# Preparing Target Data

MendelImpute accepts [VCF](https://samtools.github.io/hts-specs/VCFv4.3.pdf) and [PLINK (.bed/.bim/.fam)](https://www.cog-genomics.org/plink2/formats#bed), and [BGEN](https://www.well.ox.ac.uk/~gav/bgen_format/) files. Please make sure the following are true:
MendelImpute accepts [VCF](https://samtools.github.io/hts-specs/VCFv4.3.pdf), [PLINK (.bed/.bim/.fam)](https://www.cog-genomics.org/plink2/formats#bed), and [BGEN](https://www.well.ox.ac.uk/~gav/bgen_format/) files. Please make sure the following are true:

+ VCF file ends in `.vcf` or `.vcf.gz` (phased or unphased and may contain missing data)
+ BGEN file ends in `.bgen` (if used to store haplotypes, all variants must be phased and non-missing).
+ Missing data is allowed. Genotypes does not have to be phased.
+ VCF file ends in `.vcf` or `.vcf.gz`
+ BGEN file ends in `.bgen`. If available, index files should have the same prefix. (e.g. `genotypes.bgen` should have index file called `genotypes.bgen.bgi`. Sample identifiers may be either contained in the `.bgen` file or listed in an external `genotypes.sample` file.
+ For PLINK files, all trios (`.bim`, `.bed`, `.fam`) are present in the same directory
+ Each file contains only 1 (non-sex) chromosome
+ Every record (SNP) in the imputation target is present in the reference panel. If this is untrue, you must [match markers in 2 VCF files](https://openmendel.github.io/VCFTools.jl/dev/man/conformgt/).
+ Given a SNP, its CHROM, POS, REF, and ALT fields are the same in target data and reference panel. MendelImpute use SNP position internally to align markers.
+ The position of every SNP is unique: so multiallelic markers should be excluded instead of split (this requirement will eventually be lifted).

!!! note

Currently only BGEN inputs support index files. Indexing support for VCF files coming soon...

# Preparing Reference Haplotype Panel
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