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Support for running on AWS HealthOmics and/or an AWS EC2 VM #275

@phillip-richmond-alamya

Description

Hello,

I'm looking to run this pipeline on AWS HealthOmics, or just on a basic EC2 VM that I've spun up with suitable resources.

The AWS HealthOmics how-to is a "TBD", and when I try to treat the EC2 VM like an HPC, it's throwing errors which I can't interpret, e.g.:

2025-12-12 19:19:18.525 miniwdl-run read configuration file :: path: "/home/ec2-user/.config/miniwdl.cfg"
2025-12-12 19:19:19.085 wdl.w:humanwgs_singleton workflow start :: name: "humanwgs_singleton", source: "/scratch/HiFi-human-WGS-WDL//workflows/singleton.wdl", line: 11, column: 1, dir: "/scratch/TestRun1/20251212_191919_humanwgs_singleton"
2025-12-12 19:19:19.099 miniwdl-run.CallCache call cache miss :: cache_file: "/scratch/TestRun1/miniwdl_call_cache/humanwgs_singleton/3jn67asldcpbsyizerumkhdsfd23cffm/fgzuah6dz6r4pkg2hz7olelsxdc46kud.json"
2025-12-12 19:19:19.100 wdl.w:humanwgs_singleton miniwdl :: version: "v1.13.1", uname: "Linux ip-172-31-2-223.us-west-1.compute.internal 6.1.38-59.109.amzn2023.x86_64 #1 SMP PREEMPT_DYNAMIC Tue Jul 11 23:51:29 UTC 2023 x86_64"
2025-12-12 19:19:19.101 wdl.w:humanwgs_singleton task thread pool initialized :: task_concurrency: 64
2025-12-12 19:19:19.105 wdl.w:humanwgs_singleton visit :: node: "decl-backend", values: {"backend": "HPC"}
2025-12-12 19:19:19.105 wdl.w:humanwgs_singleton visit :: node: "decl-container_registry", values: {"container_registry": null}
2025-12-12 19:19:19.105 wdl.w:humanwgs_singleton visit :: node: "decl-cpuPlatform", values: {"cpuPlatform": null}
2025-12-12 19:19:19.105 wdl.w:humanwgs_singleton visit :: node: "decl-debug_version", values: {"debug_version": null}
2025-12-12 19:19:19.105 wdl.w:humanwgs_singleton visit :: node: "decl-fail_reads", values: {"fail_reads": null}
2025-12-12 19:19:19.105 wdl.w:humanwgs_singleton visit :: node: "decl-gpu", values: {"gpu": false}
2025-12-12 19:19:19.105 wdl.w:humanwgs_singleton visit :: node: "decl-gpuType", values: {"gpuType": null}
2025-12-12 19:19:19.105 wdl.w:humanwgs_singleton visit :: node: "decl-hifi_reads", values: {"hifi_reads": ["/scratch/Data/F160849_m84185_250917_205836_s1.hifi_reads.bam"]}
2025-12-12 19:19:19.105 wdl.w:humanwgs_singleton visit :: node: "decl-max_reads_per_alignment_chunk", values: {"max_reads_per_alignment_chunk": 500000}
2025-12-12 19:19:19.106 wdl.w:humanwgs_singleton visit :: node: "decl-pedigree_sex", values: {"pedigree_sex": {"MALE": "1", "FEMALE": "2", "": "."}}
2025-12-12 19:19:19.106 wdl.w:humanwgs_singleton visit :: node: "decl-pharmcat_min_coverage", values: {"pharmcat_min_coverage": 10}
2025-12-12 19:19:19.106 wdl.w:humanwgs_singleton visit :: node: "decl-phenotypes", values: {"phenotypes": "HP:0000001"}
2025-12-12 19:19:19.106 wdl.w:humanwgs_singleton visit :: node: "decl-preemptible", values: {"preemptible": true}
2025-12-12 19:19:19.106 wdl.w:humanwgs_singleton visit :: node: "decl-ref_map_file", values: {"ref_map_file": "/scratch/hifi-wdl-resources-v3.1.0/GRCh38.ref_map.v3p1p0.template.tsv"}
2025-12-12 19:19:19.106 wdl.w:humanwgs_singleton visit :: node: "decl-sample_id", values: {"sample_id": "F160849"}
2025-12-12 19:19:19.106 wdl.w:humanwgs_singleton visit :: node: "decl-sex", values: {"sex": "MALE"}
2025-12-12 19:19:19.106 wdl.w:humanwgs_singleton visit :: node: "decl-tertiary_map_file", values: {"tertiary_map_file": "/scratch/hifi-wdl-resources-v3.1.0/GRCh38.tertiary_map.v3p1p0.template.tsv"}
2025-12-12 19:19:19.106 wdl.w:humanwgs_singleton visit :: node: "decl-zones", values: {"zones": null}
2025-12-12 19:19:19.106 wdl.w:humanwgs_singleton visit :: node: "output-workflow_name", values: {"workflow_name": "humanwgs_singleton"}
2025-12-12 19:19:19.107 wdl.w:humanwgs_singleton ready :: job: "call-backend_configuration", callee: "backend_configuration"
2025-12-12 19:19:19.107 wdl.w:humanwgs_singleton input :: job: "call-backend_configuration", values: {"container_registry": null, "gpuType": null, "cpuPlatform": null, "zones": null, "backend": "HPC"}
2025-12-12 19:19:19.107 wdl.w:humanwgs_singleton subworkflow thread pool initialized :: subworkflow_concurrency: 64, call_depth: 0
2025-12-12 19:19:19.108 wdl.w:humanwgs_singleton.w:call-backend_configuration workflow start :: name: "backend_configuration", source: "wdl-common/wdl/workflows/backend_configuration/backend_configuration.wdl", line: 7, column: 1, dir: "/scratch/TestRun1/20251212_191919_humanwgs_singleton/call-backend_configuration"
2025-12-12 19:19:19.110 wdl.w:humanwgs_singleton workflow humanwgs_singleton (/scratch/HiFi-human-WGS-WDL//workflows/singleton.wdl Ln 11 Col 1) failed :: dir: "/scratch/TestRun1/20251212_191919_humanwgs_singleton", error: "EvalError", message: "function evaluation failed, read_map(): each line must have two fields", node: "decl-ref_map", pos: {"source": "/scratch/HiFi-human-WGS-WDL/workflows/singleton.wdl", "line": 112, "column": 33}
2025-12-12 19:19:19.111 wdl.w:humanwgs_singleton aborting workflow
2025-12-12 19:19:19.111 miniwdl-run.CallCache call cache hit :: run_dir: "/scratch/TestRun1/20251212_191310_humanwgs_singleton/call-backend_configuration", cache_file: "/scratch/TestRun1/miniwdl_call_cache/backend_configuration/d7522xdekeylaozzmrjhg4rlmu6alv4d/wli4zllozrwkmn3hqlqnfbb3ll5brdau.json"
2025-12-12 19:19:19.111 wdl.w:humanwgs_singleton.w:call-backend_configuration cached output :: name: "spot_runtime_attributes", value: {"backend": "HPC", "preemptible_tries": 0, "max_retries": 3, "zones": "", "cpuPlatform": "", "gpuType": "", "container_registry": "quay.io/pacbio", "container_namespace": null}
2025-12-12 19:19:19.112 wdl.w:humanwgs_singleton.w:call-backend_configuration cached output :: name: "on_demand_runtime_attributes", value: {"backend": "HPC", "preemptible_tries": 0, "max_retries": 3, "zones": "", "cpuPlatform": "", "gpuType": "", "container_registry": "quay.io/pacbio", "container_namespace": null}
2025-12-12 19:19:19.112 wdl.w:humanwgs_singleton.w:call-backend_configuration done (cached)
2025-12-12 19:19:19.112 miniwdl-run function evaluation failed, read_map(): each line must have two fields :: error: "EvalError", node: "decl-ref_map", pos: {"source": "/scratch/HiFi-human-WGS-WDL/workflows/singleton.wdl", "line": 112, "column": 33}, dir: "/scratch/TestRun1/20251212_191919_humanwgs_singleton"

My singleton json:

{
  "humanwgs_singleton.sample_id": "F160849",
  "humanwgs_singleton.sex": "MALE",
  "humanwgs_singleton.hifi_reads": [
    "/scratch/Data/F160849_m84185_250917_205836_s1.hifi_reads.bam"
  ],
  "humanwgs_singleton.ref_map_file": "/scratch/hifi-wdl-resources-v3.1.0/GRCh38.ref_map.v3p1p0.template.tsv",
  "humanwgs_singleton.tertiary_map_file": "/scratch/hifi-wdl-resources-v3.1.0/GRCh38.tertiary_map.v3p1p0.template.tsv",
  "humanwgs_singleton.backend": "HPC",
  "humanwgs_singleton.preemptible": true
}

I've got the resource files set (ref map template)

name    GRCh38
fasta   /scratch/hifi-wdl-resources-v3.1.0/GRCh38/human_GRCh38_no_alt_analysis_set.fasta
fasta_index	/scratch/hifi-wdl-resources-v3.1.0/GRCh38/human_GRCh38_no_alt_analysis_set.fasta.fai
trgt_tandem_repeat_bed	/scratch/hifi-wdl-resources-v3.1.0/GRCh38/trgt/adotto_strchive_20250827.hg38.bed.gz
sawfish_exclude_bed	/scratch/hifi-wdl-resources-v3.1.0/GRCh38/sawfish/annotation_and_common_cnv.hg38.bed.gz
sawfish_exclude_bed_index	/scratch/hifi-wdl-resources-v3.1.0/GRCh38/sawfish/annotation_and_common_cnv.hg38.bed.gz.tbi
sawfish_expected_bed_male	/scratch/hifi-wdl-resources-v3.1.0/GRCh38/sawfish/expected_cn.hg38.XY.bed
sawfish_expected_bed_female	/scratch/hifi-wdl-resources-v3.1.0/GRCh38/sawfish/expected_cn.hg38.XX.bed
methbat_region_tsv	/scratch/hifi-wdl-resources-v3.1.0/GRCh38/methbat/cpgIslandExt.sorted.hg38.tsv
pharmcat_positions_vcf	/scratch/hifi-wdl-resources-v3.1.0/GRCh38/pharmcat/pharmcat_positions_2.15.4.vcf.bgz
pharmcat_positions_vcf_index	/scratch/hifi-wdl-resources-v3.1.0/GRCh38/pharmcat/pharmcat_positions_2.15.4.vcf.bgz.csi

tertiary map template

slivar_js	/scratch//hifi-wdl-resources-v3.1.0/slivar/slivar-functions.v0.2.8.js
ensembl_gff	/scratch//hifi-wdl-resources-v3.1.0/GRCh38/ensembl.GRCh38.101.reformatted.gff3.gz
lof_lookup	/scratch//hifi-wdl-resources-v3.1.0/slivar/lof.gnomadv4p1.lookup
clinvar_lookup	/scratch//hifi-wdl-resources-v3.1.0/slivar/clinvar_gene_desc.20250618T144412.txt
slivar_gnotate_files	/scratch//hifi-wdl-resources-v3.1.0/GRCh38/slivar_gnotate/gnomad.hg38.v4.1.custom.v1.zip,/scratch//hifi-wdl-resources-v3.1.0/GRCh38/slivar_gnotate/CoLoRSdb.GRCh38.v1.2.0.deepvariant.glnexus.zip
slivar_gnotate_prefixes	gnomad,colors
slivar_max_af	0.03
slivar_max_nhomalt	4
slivar_max_ac	4
slivar_min_gq	5
svpack_pop_vcfs	/scratch//hifi-wdl-resources-v3.1.0/GRCh38/sv_pop_vcfs/gnomad.v4.1.sv.sites.pass.vcf.gz,/scratch//hifi-wdl-resources-v3.1.0/GRCh38/sv_pop_vcfs/CoLoRSdb.GRCh38.v1.2.0.pbsv.jasmine.vcf.gz
svpack_pop_vcf_indices	/scratch//hifi-wdl-resources-v3.1.0/GRCh38/sv_pop_vcfs/gnomad.v4.1.sv.sites.pass.vcf.gz.tbi,/scratch//hifi-wdl-resources-v3.1.0/GRCh38/sv_pop_vcfs/CoLoRSdb.GRCh38.v1.2.0.pbsv.jasmine.vcf.gz.tbi

Any support would be grateful!

Thanks,
Phil

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