Add mosdepth for alignment QC

Sentieon · Jul 24, 2024 · b9b2cf3 · b9b2cf3
1 parent 5d82012
commit b9b2cf3
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Showing 3 changed files with 84 additions and 7 deletions.
diff --git a/.github/workflows/main.yml b/.github/workflows/main.yml
@@ -19,7 +19,7 @@ jobs:
       matrix:
         python-version: ["3.8", "3.12"]
         poetry-version: ["1.5.1"]
-        sentieon-version: ["202308.01", "202308.02"]
+        sentieon-version: ["202308.01", "202308.03"]
         os: [ubuntu-22.04] #, macos-latest, windows-latest]
     runs-on: ${{ matrix.os }}
     steps:
@@ -48,6 +48,10 @@ jobs:
         run: |
           sudo curl -L -o /usr/local/bin/bedtools "https://github.com/arq5x/bedtools2/releases/download/v2.31.0/bedtools.static"
           sudo chmod ugo+x /usr/local/bin/bedtools
+      - name: Install mosdepth
+        run: |
+          sudo curl -L -o /usr/local/bin/mosdepth "https://github.com/brentp/mosdepth/releases/download/v0.3.8/mosdepth"
+          sudo chmod ugo+x /usr/local/bin/mosdepth
       - name: Install sentieon
         run: |
           curl -L https://s3.amazonaws.com/sentieon-release/software/sentieon-genomics-$SENTIEON_VERSION.tar.gz | tar -zxf -
@@ -78,7 +82,7 @@ jobs:
       - name: Smoke test - short-read
         run: |
           . .venv/bin/activate
-          sentieon-cli dnascope -t 1 -r "tests/smoke/r ef.fa" --pcr-free -g \
+          sentieon-cli -v dnascope -t 1 -r "tests/smoke/r ef.fa" --pcr-free -g \
             --duplicate-marking rmdup --consensus --align \
             --input_ref "tests/smoke/r ef.fa" -i "tests/smoke/illumina.cram" \
             -m "DNAscope IlluminaWGS2.0.bundle" "output_sr.vcf.gz"
@@ -90,7 +94,7 @@ jobs:
           . .venv/bin/activate
           samtools fastq --reference "tests/smoke/r ef.fa" -1 sr_r1.fastq.gz \
             -2 sr_r2.fastq.gz "tests/smoke/illumina.cram" > /dev/null
-          sentieon-cli dnascope -t 1 -r "tests/smoke/r ef.fa" --pcr-free \
+          sentieon-cli -v dnascope -t 1 -r "tests/smoke/r ef.fa" --pcr-free \
           --r1-fastq sr_r1.fastq.gz --r2-fastq sr_r2.fastq.gz \
             --readgroups "@RG\tID:HG002-1\tSM:HG002" \
             -m "DNAscope IlluminaWGS2.0.bundle" --assay WES \
@@ -101,7 +105,7 @@ jobs:
       - name: Smoke test - long-read
         run: |
           . .venv/bin/activate
-          sentieon-cli dnascope-longread -t 1 -r "tests/smoke/r ef.fa" \
+          sentieon-cli -v dnascope-longread -t 1 -r "tests/smoke/r ef.fa" \
             -i "tests/smoke/sam ple.cram" -m "DNAscope PacBio2.1.bundle" \
             --repeat-model tests/smoke/sample_repeat.model -g \
             -b "tests/smoke/diploid.bed" \
@@ -115,7 +119,7 @@ jobs:
       - name: Smoke test - gVCF
         run: |
           . .venv/bin/activate
-          sentieon-cli dnascope-longread --tech ONT -t 1 -r "tests/smoke/r ef.fa" \
+          sentieon-cli -v dnascope-longread --tech ONT -t 1 -r "tests/smoke/r ef.fa" \
             -i "tests/smoke/sam ple.cram" -m "DNAscope PacBio2.1.bundle" \
             --repeat-model tests/smoke/sample_repeat.model -g "output ont.vcf.gz"
           sentieon driver -r "tests/smoke/r ef.fa" -t 1 --algo GVCFtyper \
@@ -126,7 +130,7 @@ jobs:
       - name: Smoke test - realignment
         run: |
           . .venv/bin/activate
-          sentieon-cli dnascope-longread -t 1 -r "tests/smoke/r ef.fa" \
+          sentieon-cli -v dnascope-longread -t 1 -r "tests/smoke/r ef.fa" \
             -i "tests/smoke/sam ple.cram" -m "DNAscope PacBio2.1.bundle" \
             --repeat-model tests/smoke/sample_repeat.model --align \
             --input_ref "tests/smoke/r ef.fa" "output realigned.vcf.gz"
@@ -139,7 +143,7 @@ jobs:
           samtools fastq --reference "tests/smoke/r ef.fa" \
             "tests/smoke/sam ple.cram" | \
             gzip -c > sample.fq.gz
-          sentieon-cli dnascope-longread -t 1 -r "tests/smoke/r ef.fa" \
+          sentieon-cli -v dnascope-longread -t 1 -r "tests/smoke/r ef.fa" \
             --fastq sample.fq.gz --readgroups '@RG\tID:sample-1\tSM:sample' \
             -m "DNAscope PacBio2.1.bundle" \
             --repeat-model tests/smoke/sample_repeat.model "output fq.vcf.gz"

diff --git a/sentieon_cli/command_strings.py b/sentieon_cli/command_strings.py
@@ -536,3 +536,25 @@ def cmd_multiqc(
         ]
     )
     return shlex.join(cmd)
+
+
+def cmd_mosdepth(
+    sample_input: pathlib.Path,
+    output_directory: pathlib.Path,
+    fasta: Optional[pathlib.Path] = None,
+    threads: int = 1,
+    xargs: str = (
+        "--by 500 --no-per-base --use-median -T 1,3,5,10,15,20,30,40,50"
+    ),
+) -> str:
+    cmd = [
+        "mosdepth",
+        "--fasta",
+        str(fasta),
+        "--threads",
+        str(threads),
+    ]
+    cmd.extend(shlex.split(xargs))
+    cmd.append(str(output_directory))
+    cmd.append(str(sample_input))
+    return shlex.join(cmd)
diff --git a/sentieon_cli/dnascope_longread.py b/sentieon_cli/dnascope_longread.py
@@ -53,6 +53,10 @@
     "sentieon driver": packaging.version.Version("202308"),
 }
 
+MOSDEPTH_MIN_VERSIONS = {
+    "mosdepth": packaging.version.Version("0.2.6"),
+}
+
 
 def align_inputs(
     run: Callable[[str], None],
@@ -521,6 +525,45 @@ def call_svs(
     return 0
 
 
+def mosdepth(
+    run: Callable[[str], None],
+    output_vcf: pathlib.Path,
+    reference: pathlib.Path,
+    sample_input: List[pathlib.Path],
+    cores: int = mp.cpu_count(),
+    skip_version_check: bool = False,
+    **_kwargs: Any,
+) -> int:
+    """Run mosdepth for QC"""
+
+    if not skip_version_check:
+        if not all(
+            [
+                check_version(cmd, min_version)
+                for (cmd, min_version) in MOSDEPTH_MIN_VERSIONS.items()
+            ]
+        ):
+            logger.warning(
+                "Skipping mosdepth. mosdepth version %s or later not found",
+                MOSDEPTH_MIN_VERSIONS["mosdepth"],
+            )
+            return 1
+
+    mosdepth_dir = pathlib.Path(
+        str(output_vcf).replace(".vcf.gz", "_mosdepth")
+    )
+    for input_file in sample_input:
+        run(
+            cmds.cmd_mosdepth(
+                input_file,
+                mosdepth_dir,
+                fasta=reference,
+                threads=cores,
+            )
+        )
+    return 0
+
+
 @arg(
     "-r",
     "--reference",
@@ -610,6 +653,10 @@ def call_svs(
     "--skip-svs",
     help="Skip SV calling",
 )
+@arg(
+    "--skip-mosdepth",
+    help="Skip QC with mosdepth",
+)
 @arg(
     "--align",
     help="Align the input BAM/CRAM/uBAM file to the reference genome",
@@ -666,6 +713,7 @@ def dnascope_longread(
     dry_run: bool = False,
     skip_small_variants: bool = False,
     skip_svs: bool = False,
+    skip_mosdepth: bool = False,
     align: bool = False,
     input_ref: Optional[pathlib.Path] = None,
     fastq_taglist: str = "*",  # pylint: disable=W0613
@@ -708,6 +756,9 @@ def dnascope_longread(
         sample_input = align_inputs(**locals())
     sample_input.extend(align_fastq(**locals()))
 
+    if not skip_mosdepth:
+        _res = mosdepth(**locals())
+
     if not skip_small_variants:
         res = call_variants(**locals())
         if res != 0: