gwas-sumstats-tools 1.0.5

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GWAS SumStats Tools

A simple toolkit for reading and formatting GWAS sumstats files from the GWAS Catalog. Built with:

• Petl
• Pydantic
• Typer

There are three commands, validate, read and format.

validate is for:

• Validating a summary statistic file using a dynamically generated schema

read is for:

• Previewing a data file: no options
• Extracting the field headers: -h
• Extracting all the metadata: -M
• Extacting specific field, value pairs from the metada: -m <field name>
• More functionality is to come...

format is for:

• Converting a minamally formatted sumstats data file to the standard format. This is not guaranteed to return a valid standard file, because manadatory data fields could be missing in the input. It simply does the following. -s
  • Renames variant_id -> rsid
  • Reorders the fields
  • Converts NA missing values to #NA
  • It is memory efficient and will take approx. 30s per 1 million records
• Generate metadata for a data file: -m
  • Read metadata in from existing file: --meta-in <file>
  • Create metadata from the GWAS Catalog (internal use, requires authenticated API): -g
  • Edit/add the values to the metadata: -e with --<FIELD>=<VALUE>

Requirements

• python >= 3.9

Installation

Local installation with pip

$ pip3 install gwas-sumstats-tools

Run with Docker

The following Docker command is the equivalent to running gwas-ssf.

$ docker run -it -v ${PWD}:/application ebispot/gwas-sumstats-tools:latest

Just append any subcommands or arguments e.g.:

$ docker run -it -v ${PWD}:/application ebispot/gwas-sumstats-tools:latest validate

Usage

$ gwas-ssf [OPTIONS] COMMAND [ARGS]...

Options:

• --help: Show this message and exit.

Commands:

• validate: Validate a sumstats file
• format: Format a sumstats file
• read: Read a sumstats file

gwas-ssf validate

Validate a sumstats file

Usage:

$ gwas-ssf validate [OPTIONS] FILENAME

Arguments:

• FILENAME: Input sumstats file. Must be TSV (may be gzipped) [required]

Options:

• -e, --errors-out: Output erros to a csv file, .err.csv.gz
• -z, --p-zero: Force p-values of zero to be allowable. Takes precedence over inferred value (-i)
• -m, --min-rows: Minimum rows acceptable for the file [default: 100000]
• -i, --infer-from-metadata: Infer validation options from the metadata file -meta.yaml. E.g. a populated field for analysis software makes p-values of zero allowable.
• --help: Show this message and exit.

gwas-ssf read

Read (preview) a sumstats file

Usage:

$ gwas-ssf read [OPTIONS] FILENAME

Arguments:

• FILENAME: Input sumstats file [required]

Options:

• -h, --get-header: Just return the headers of the file [default: False]
• --meta-in PATH: Specify a metadata file to read in, defaulting to -meta.yaml
• -M, --get-all-metadata: Return all metadata [default: False]
• -m, --get-metadata TEXT: Get metadata for the specified fields e.g. `-m genomeAssembly -m isHarmonised
• --help: Show this message and exit.

gwas-ssf format

Format a sumstats file and creating a new one. Add/edit metadata.

Usage:

$ gwas-ssf format [OPTIONS] FILENAME

Arguments:

• FILENAME: Input sumstats file. Must be TSV or CSV and may be gzipped [required]

Options:

• -o, --ss-out PATH: Output sumstats file
• -s, --minimal2standard: Try to convert a valid, minimally formatted file to the standard format.This assumes the file at least has p_value combined with rsid in variant_id field or chromosome and base_pair_location. Validity of the new file is not guaranteed because mandatory data could be missing from the original file. [default: False]
• -m, --generate-metadata: Create the metadata file [default: False]
• --meta-out PATH: Specify the metadata output file
• --meta-in PATH: Specify a metadata file to read in
• -e, --meta-edit: Enable metadata edit mode. Then provide params to edit in the --<FIELD>=<VALUE> format e.g. --GWASID=GCST123456 to edit/add that value [default: False]
• -g, --meta-gwas: Populate metadata from GWAS Catalog [default: False]
• -c, --custom-header-map: Provide a custom header mapping using the --<FROM>:<TO> format e.g. --chr:chromosome [default: False]
• --help: Show this message and exit.

Development

This repository uses poetry for dependency and packaging management.

To run the tests:

1. install poetry

2. git clone https://github.com/EBISPOT/gwas-sumstats-tools.git

3. cd gwas-sumstats-tools

4. poetry install

5. poetry run pytest

To make a change: branch from master -> PR to master -> poetry version -> git add pyproject.toml -> git commit -> git tag -> git push origin master --tags If all the tests pass, this will publish to pypi.