ENSEMBL-VARIATION

Download known genomic variants from ENSEMBL FTP servers, and store them in a single .vcf.gz file.

Software dependencies

• bcftools =1.10
• curl

Example

This wrapper can be used in the following way:

rule get_variation:
    output:
        vcf="refs/variation.vcf.gz"
        # Optional: add fai to get VCF with annotated contig lengths (as required by GATK)
        # and properly sorted VCFs.
        # fai="refs/genome.fasta.fai"
    params:
        species="saccharomyces_cerevisiae",
        release="98", # releases <98 are unsupported
        build="R64-1-1",
        type="all" # one of "all", "somatic", "structural_variation"
    log:
        "logs/get_variation.log"
    cache: True  # save space and time with between workflow caching (see docs)
    wrapper:
        "0.65.0/bio/reference/ensembl-variation"

Note that input, output and log file paths can be chosen freely. When running with

snakemake --use-conda

the software dependencies will be automatically deployed into an isolated environment before execution.

Authors

• Johannes Köster

Code

__author__ = "Johannes Köster"
__copyright__ = "Copyright 2019, Johannes Köster"
__email__ = "johannes.koester@uni-due.de"
__license__ = "MIT"

import tempfile
import subprocess
import sys
import os
from snakemake.shell import shell
from snakemake.exceptions import WorkflowError

species = snakemake.params.species.lower()
release = int(snakemake.params.release)
build = snakemake.params.build
type = snakemake.params.type

if release < 98:
    print("Ensembl releases <98 are unsupported.", file=open(snakemake.log[0], "w"))
    exit(1)

branch = ""
if release >= 81 and build == "GRCh37":
    # use the special grch37 branch for new releases
    branch = "grch37/"

log = snakemake.log_fmt_shell(stdout=False, stderr=True)

if type == "all":
    if species == "homo_sapiens" and release >= 93:
        suffixes = [
            "-chr{}".format(chrom) for chrom in list(range(1, 23)) + ["X", "Y", "MT"]
        ]
    else:
        suffixes = [""]
elif type == "somatic":
    suffixes = ["_somatic"]
elif type == "structural_variations":
    suffixes = ["_structural_variations"]
else:
    raise ValueError(
        "Unsupported type {} (only all, somatic, structural_variations are allowed)".format(
            type
        )
    )

species_filename = species if release >= 91 else species.capitalize()

urls = [
    "ftp://ftp.ensembl.org/pub/{branch}release-{release}/variation/vcf/{species}/{species_filename}{suffix}.{ext}".format(
        release=release,
        species=species,
        suffix=suffix,
        species_filename=species_filename,
        branch=branch,
        ext=ext,
    )
    for suffix in suffixes
    for ext in ["vcf.gz", "vcf.gz.csi"]
]
names = [os.path.basename(url) for url in urls if url.endswith(".gz")]

try:
    gather = "curl {urls}".format(urls=" ".join(map("-O {}".format, urls)))
    workdir = os.getcwd()
    with tempfile.TemporaryDirectory() as tmpdir:
        if snakemake.input.get("fai"):
            shell(
                "(cd {tmpdir}; {gather} && "
                "bcftools concat -Oz --naive {names} > concat.vcf.gz && "
                "bcftools reheader --fai {workdir}/{snakemake.input.fai} concat.vcf.gz "
                "> {workdir}/{snakemake.output}) {log}"
            )
        else:
            shell(
                "(cd {tmpdir}; {gather} && "
                "bcftools concat -Oz --naive {names} "
                "> {workdir}/{snakemake.output}) {log}"
            )
except subprocess.CalledProcessError as e:
    if snakemake.log:
        sys.stderr = open(snakemake.log[0], "a")
    print(
        "Unable to download variation data from Ensembl. "
        "Did you check that this combination of species, build, and release is actually provided? ",
        file=sys.stderr,
    )
    exit(1)