Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

Adding gzip and VCF to the schema #89

Open
wants to merge 6 commits into
base: dev
Choose a base branch
from
Open
Show file tree
Hide file tree
Changes from 5 commits
Commits
File filter

Filter by extension

Filter by extension

Conversations
Failed to load comments.
Loading
Jump to
Jump to file
Failed to load files.
Loading
Diff view
Diff view
8 changes: 4 additions & 4 deletions POSEIDON_yml_fields.tsv
Original file line number Diff line number Diff line change
Expand Up @@ -9,10 +9,10 @@ orcid 1 contributor orcid of one contributor String ORCID FALSE
packageVersion 0 package version (should be changed/incremented when the package is changed) String X.Y.Z TRUE
lastModified 0 date of last modification of the package (should be updated when the package is changed) Date YYYY-MM-DD FALSE
genotypeData 0 genotype data section TRUE
format 1 genotypeData genotype data file format String EIGENSTRAT;PLINK TRUE
genoFile 1 genotypeData relative path to the geno file String Path TRUE
genoFileChkSum 1 genotypeData md5 checksum of the geno file String md5 hash FALSE
snpFile 1 genotypeData relative path to the snp file String Path TRUE
format 1 genotypeData genotype data file format String EIGENSTRAT;PLINK;VCF TRUE
genoFile 1 genotypeData relative path to the genotype file. If gzipped, MUST end with *.gz String Path TRUE
genoFileChkSum 1 genotypeData md5 checksum of the genotype file String md5 hash FALSE
snpFile 1 genotypeData relative path to the snp file. If gzipped, MUST end with *.gz String Path TRUE
snpFileChkSum 1 genotypeData md5 checksum of the snp file String md5 hash FALSE
indFile 1 genotypeData relative path to the ind file String Path TRUE
indFileChkSum 1 genotypeData md5 checksum of the ind file String md5 hash FALSE
Expand Down
14 changes: 8 additions & 6 deletions README.md
Original file line number Diff line number Diff line change
Expand Up @@ -119,16 +119,18 @@ Packages SHOULD start at `packageVersion` `0.1.0`.

### Genotype data

Genotype data in Poseidon packages is stored either in (binary) PLINK or EIGENSTRAT format.
Genotype data in Poseidon packages is stored either in (binary) PLINK, EIGENSTRAT or Variant Call Format (VCF).

| | PLINK (binary) | EIGENSTRAT |
|---|---|---|
| genotype file | [`.bed` (binary biallelic genotype table)](https://www.cog-genomics.org/plink/1.9/formats#bed) | [`.geno` (genotype file)](https://github.com/DReichLab/EIG/blob/fb4fb59065055d3622e0f97f0149588eae630a3e/CONVERTF/README#L67)
| SNP file | [`.bim` (extended MAP file)](https://www.cog-genomics.org/plink/1.9/formats#bim) | [`.snp` (snp file)](https://github.com/DReichLab/EIG/blob/fb4fb59065055d3622e0f97f0149588eae630a3e/CONVERTF/README#L67) |
| individual file | [`.fam` (sample information)](https://www.cog-genomics.org/plink/1.9/formats#fam) | [`.ind` (indiv file)](https://github.com/DReichLab/EIG/blob/fb4fb59065055d3622e0f97f0149588eae630a3e/CONVERTF/README#L67) |
| | PLINK (binary) | EIGENSTRAT | VCF
|---|---|---|---|
| genotype file | [`.bed` (binary biallelic genotype table) or `.bed.gz`](https://www.cog-genomics.org/plink/1.9/formats#bed) | [`.geno` (genotype file) or `.geno.gz`](https://github.com/DReichLab/EIG/blob/fb4fb59065055d3622e0f97f0149588eae630a3e/CONVERTF/README#L67) | [`.vcf` or `.vcf.gz`](https://samtools.github.io/hts-specs/VCFv4.2.pdf) |
| SNP file | [`.bim` (extended MAP file) or `.bim.gz`](https://www.cog-genomics.org/plink/1.9/formats#bim) | [`.snp` (snp file) or `.snp.gz`](https://github.com/DReichLab/EIG/blob/fb4fb59065055d3622e0f97f0149588eae630a3e/CONVERTF/README#L67) | |
| individual file | [`.fam` (sample information)](https://www.cog-genomics.org/plink/1.9/formats#fam) | [`.ind` (indiv file)](https://github.com/DReichLab/EIG/blob/fb4fb59065055d3622e0f97f0149588eae630a3e/CONVERTF/README#L67) | |

In addition to these files (and optionally their checksums), the POSEIDON.yml file SHOULD also provide a `snpSet` entry which determines the shape of the genotype file.

Note that genotype and snp files can be optionally zipped, in which case they MUST end with `.gz`.

### The `.janno` file

The `.janno` file is a tab-separated text file with a header line. It holds context information (variables/columns) for each sample (objects/rows) in a package.
Expand Down
Binary file modified poseidon_package_specification.pdf
Binary file not shown.