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Evidence claim

Evidence summary: diagnostic genomics model execution: value

Claimed value of Evidence summary: diagnostic genomics model execution

Eight published execution benchmarks are linked, alongside the DRAGEN 4.2 developer total runtime for HG002 (1,838.5 seconds); two are withheld pending source concerns (see the end of this summary). Of the six active benchmarks, five measure conventional variant-calling pipelines and one measures inference of a genomic foundation model on microbial genomes, outside any diagnostic workflow. Only the foundation-model benchmark prints spread over repeated runs (five trials); none reruns a variant-calling pipeline to measure concordance of the calls, none prints variant-calling accuracy in the same table as runtime, and hardware differs within most comparisons, so differences mix software and hardware. On ten WGS samples run by a University of Oslo and Oslo University Hospital group with no declared competing interests (Samarakoon et al. 2025), read mapping plus HaplotypeCaller for NA12878 (47.55x) took 2,317.7 minutes on a CPU-only GATK pipeline, 123.45 minutes with Parabricks on four L4 GPUs, 78.12 on four A100 GPUs, 54.22 on eight H100 GPUs and 60.29 with DRAGEN v4.2. On the same H100 machine, Parabricks DeepVariant took 14.58 minutes for NA12878 with the version the pipeline used (printed 4.1.0-1; Methods say 4.3.0-1) and 16.05 minutes with the updated version (printed 4.3.0-1; Discussion says 4.3.1-1). On one HG002 30x genome on Google Cloud (O'Connell et al. 2023; the authors' employer funded the study and is an NVIDIA, AWS and Google alliance partner), HaplotypeCaller took 38.8 hours and cost 67.9 USD on a 32-vCPU machine and 0.59 hours and 17.5 USD on eight A100 GPUs, while the somatic caller LoFreq cost 8.1 USD on the CPU machine and 19 to 30.1 USD on 2 to 8 A100 GPUs. On Google Cloud machines of similar hourly cost (Franzoso et al. 2025, no declared conflicts), Sentieon DNASeq took 0:14:00 to 0:16:00 per exome at 0.82 to 1.03 USD and 3:00:00 to 3:50:00 per genome at 8.02 to 10.7 USD, and Parabricks Germline on one T4 GPU took 0:10:00 to 0:14:00 per exome at 0.71 to 0.93 USD and 4:06:00 to 4:40:00 per genome at 8.13 to 10.6 USD; costs exclude the Sentieon licence, and two genome runtime cells that cannot be genome runtimes are disputed and left out of these ranges. On human WGS at five read depths on the HPC nodes of a regional genome project (Marangoni et al. 2026; the GeNePi developers, no declared competing interests; one unnamed sample per depth), a 30x genome took 17h with the CPU GATK equivalent and 1h 36m, 42 m and 30m with Parabricks v4.3.0 on two V100, two A100 and four A100 GPUs, and a 100x genome 60h, 6h 30m, 2h 30m and 2h 06m. On one 120-vCPU Azure instance (Hu et al. 2026; all authors employed by Sentieon), DNAscope took 18.9 minutes for 30x Illumina, DNAscope LongRead 41.2 minutes for 30x PacBio HiFi and DNAscope Hybrid 85.8 minutes for 10x PacBio HiFi plus 35x Illumina, at 1.1, 2.5 and 5.2 USD on demand excluding the licence; each pipeline had different input data, so the three are not a ranking. For GenomeOcean on one H100 (Yu et al. 2026; two authors are at the DOE Joint Genome Institute, which develops GenomeOcean; GTDB bacterial genomes; mean and standard deviation over five trials), embedding extraction with the 4B model ran at 21,386 ± 126 input tokens per second with 72.14 GB peak GPU memory in BF16 and 22,401 ± 204 with 67.91 GB with FP8 weights, and generation ran at 1818.79 ± 7.95 generated tokens per second in BF16 and 2169.04 ± 24.30 with FP8 weights, activations and KV cache. No active linked result measures variant-calling accuracy against a truth set; the GenomeOcean ARI values score metagenomic binning against GTDB species labels. The two withheld studies are Zheng et al. 2026 (Clair3 developers; Clair3 and DeepVariant on HG003 long reads), whose supplementary runtimes, DeepVariant version and DeepVariant accuracy differ from its Results text and whose accuracy uses one GIAB sample's v4.2.1 confident regions, which leave out the hardest regions; and Aspidova et al. 2026 (ModernGENA and GENA-LM developers; four DNA language model families on one A100), whose printed tokens per second are far too low for its batch sizes. Apart from the five GenomeOcean trials, each comparison prints one value per sample and set-up on at most ten samples, and costs are list prices at the time of each study.

Replace the use-case summary with the reviewer's text after the 2026-10-11 execution literature pass added four active and two withheld studies. Historical releases retain the previous value.

Evidence

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70 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-10-22-1b7cf027e4f6
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Context-only references
DRAGEN supplementary tables 1–17

Original source ↗

amp-source-dragen-supplementary-tables: result amp-result-dragen-hg002-phase4-runtime; model-execution-20261009-source-samarakoon2025-supplement: Supplementary Tables S1 and S3; model-execution-20261009-source-oconnell2023: Table 1; model-execution-20261009-source-franzoso2025-table-s2: Table S2; articles: Methods, Discussion, Funding and Conflicts of interest; model-execution-20261011-source-marangoni2026-genepi-supplement: Table S1; model-execution-20261011-source-marangoni2026-genepi: Competing interest; model-execution-20261011-source-hu2026-dnascope-hybrid: Table 2, Conflict of interest; model-execution-20261011-source-yu2026-fp8-genomeocean: Tables 3 and 4, author affiliations

Shared locator for this statement’s cited sources; not a separate locator for each citation.

Version: MOESM3 XLSX retrieved 2026-10-07
Retrieved: 2026-10-07T12:25:22.006309+00:00

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Rapid NGS Analysis on Google Cloud Platform: Performance Benchmark and User Tutorial

Original source ↗

amp-source-dragen-supplementary-tables: result amp-result-dragen-hg002-phase4-runtime; model-execution-20261009-source-samarakoon2025-supplement: Supplementary Tables S1 and S3; model-execution-20261009-source-oconnell2023: Table 1; model-execution-20261009-source-franzoso2025-table-s2: Table S2; articles: Methods, Discussion, Funding and Conflicts of interest; model-execution-20261011-source-marangoni2026-genepi-supplement: Table S1; model-execution-20261011-source-marangoni2026-genepi: Competing interest; model-execution-20261011-source-hu2026-dnascope-hybrid: Table 2, Conflict of interest; model-execution-20261011-source-yu2026-fp8-genomeocean: Tables 3 and 4, author affiliations

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Version: Clinical and Translational Science 18(11):e70416, published 2025-11-18; PMC12627752 full-text XML
Retrieved: 2026-10-09T20:22:39Z

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Franzoso et al. 2025, Table S2 (runtime and costs per sample) and Table S1 (sample identifiers)

Original source ↗

amp-source-dragen-supplementary-tables: result amp-result-dragen-hg002-phase4-runtime; model-execution-20261009-source-samarakoon2025-supplement: Supplementary Tables S1 and S3; model-execution-20261009-source-oconnell2023: Table 1; model-execution-20261009-source-franzoso2025-table-s2: Table S2; articles: Methods, Discussion, Funding and Conflicts of interest; model-execution-20261011-source-marangoni2026-genepi-supplement: Table S1; model-execution-20261011-source-marangoni2026-genepi: Competing interest; model-execution-20261011-source-hu2026-dnascope-hybrid: Table 2, Conflict of interest; model-execution-20261011-source-yu2026-fp8-genomeocean: Tables 3 and 4, author affiliations

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Version: CTS-18-e70416-s002.xlsx (Table S2) inside the Europe PMC supplementary files bundle for PMC12627752
Retrieved: 2026-10-09T20:26:38Z

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Hash scope: SHA-256 of CTS-18-e70416-s002.xlsx. Table S1 (CTS-18-e70416-s001.xlsx) from the same bundle has SHA-256 b221919e435217c607ff426d80fc5718c7f4d3e0fbaa6261cf13e8c5b7ae0f4e and is used only to assert sample identifiers. The bundle is assembled per request, so only member hashes are pinned.

Archive member: CTS-18-e70416-s002.xlsx

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Accelerating genomic workflows using NVIDIA Parabricks

Original source ↗

amp-source-dragen-supplementary-tables: result amp-result-dragen-hg002-phase4-runtime; model-execution-20261009-source-samarakoon2025-supplement: Supplementary Tables S1 and S3; model-execution-20261009-source-oconnell2023: Table 1; model-execution-20261009-source-franzoso2025-table-s2: Table S2; articles: Methods, Discussion, Funding and Conflicts of interest; model-execution-20261011-source-marangoni2026-genepi-supplement: Table S1; model-execution-20261011-source-marangoni2026-genepi: Competing interest; model-execution-20261011-source-hu2026-dnascope-hybrid: Table 2, Conflict of interest; model-execution-20261011-source-yu2026-fp8-genomeocean: Tables 3 and 4, author affiliations

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Version: BMC Bioinformatics 24:221, published 2023-05-31; PMC10230726 full-text XML
Retrieved: 2026-10-09T20:20:46Z

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Benchmarking accelerated next-generation sequencing analysis pipelines

Original source ↗

amp-source-dragen-supplementary-tables: result amp-result-dragen-hg002-phase4-runtime; model-execution-20261009-source-samarakoon2025-supplement: Supplementary Tables S1 and S3; model-execution-20261009-source-oconnell2023: Table 1; model-execution-20261009-source-franzoso2025-table-s2: Table S2; articles: Methods, Discussion, Funding and Conflicts of interest; model-execution-20261011-source-marangoni2026-genepi-supplement: Table S1; model-execution-20261011-source-marangoni2026-genepi: Competing interest; model-execution-20261011-source-hu2026-dnascope-hybrid: Table 2, Conflict of interest; model-execution-20261011-source-yu2026-fp8-genomeocean: Tables 3 and 4, author affiliations

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Version: Bioinformatics Advances 5(1):vbaf085, published 2025-05-15; PMC12092081 full-text XML
Retrieved: 2026-10-09T20:20:45Z

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Samarakoon et al. 2025, supplementary materials (Tables S1-S4, supplementary texts)

Original source ↗

amp-source-dragen-supplementary-tables: result amp-result-dragen-hg002-phase4-runtime; model-execution-20261009-source-samarakoon2025-supplement: Supplementary Tables S1 and S3; model-execution-20261009-source-oconnell2023: Table 1; model-execution-20261009-source-franzoso2025-table-s2: Table S2; articles: Methods, Discussion, Funding and Conflicts of interest; model-execution-20261011-source-marangoni2026-genepi-supplement: Table S1; model-execution-20261011-source-marangoni2026-genepi: Competing interest; model-execution-20261011-source-hu2026-dnascope-hybrid: Table 2, Conflict of interest; model-execution-20261011-source-yu2026-fp8-genomeocean: Tables 3 and 4, author affiliations

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Version: 'Publication-ready_Supplementary materials-20250404.pdf' inside vbaf085_supplementary_data.zip
Retrieved: 2026-10-09T20:25:01Z

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Hash scope: SHA-256 of the PDF. The publisher zip vbaf085_supplementary_data.zip that contains it has SHA-256 a828608e459ec1fe57828e9b4fbce228e9507b8686eecedac323f45fd4c3cc07. Retrieved inside the Europe PMC supplementaryFiles zip, which is assembled per request; the publisher's inner zip and the PDF it holds are pinned.

Archive member: Publication-ready_Supplementary materials-20250404.pdf

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A novel and accelerated method for integrated alignment and variant calling from short and long reads

Original source ↗

amp-source-dragen-supplementary-tables: result amp-result-dragen-hg002-phase4-runtime; model-execution-20261009-source-samarakoon2025-supplement: Supplementary Tables S1 and S3; model-execution-20261009-source-oconnell2023: Table 1; model-execution-20261009-source-franzoso2025-table-s2: Table S2; articles: Methods, Discussion, Funding and Conflicts of interest; model-execution-20261011-source-marangoni2026-genepi-supplement: Table S1; model-execution-20261011-source-marangoni2026-genepi: Competing interest; model-execution-20261011-source-hu2026-dnascope-hybrid: Table 2, Conflict of interest; model-execution-20261011-source-yu2026-fp8-genomeocean: Tables 3 and 4, author affiliations

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Version: Frontiers in Bioinformatics 5:1691056, published 2026-01-05; PMC12813096 full-text XML
Retrieved: 2026-10-11T21:42:46Z

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GeNePi: a graphics processing unit enhanced next-generation bioinformatics pipeline for whole-genome sequencing analysis

Original source ↗

amp-source-dragen-supplementary-tables: result amp-result-dragen-hg002-phase4-runtime; model-execution-20261009-source-samarakoon2025-supplement: Supplementary Tables S1 and S3; model-execution-20261009-source-oconnell2023: Table 1; model-execution-20261009-source-franzoso2025-table-s2: Table S2; articles: Methods, Discussion, Funding and Conflicts of interest; model-execution-20261011-source-marangoni2026-genepi-supplement: Table S1; model-execution-20261011-source-marangoni2026-genepi: Competing interest; model-execution-20261011-source-hu2026-dnascope-hybrid: Table 2, Conflict of interest; model-execution-20261011-source-yu2026-fp8-genomeocean: Tables 3 and 4, author affiliations

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Version: Briefings in Bioinformatics 27(1), published 2026-01-25; PMC12832024 full-text XML
Retrieved: 2026-10-11T21:42:44Z

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GeNePi: Supplementary Information

Original source ↗

amp-source-dragen-supplementary-tables: result amp-result-dragen-hg002-phase4-runtime; model-execution-20261009-source-samarakoon2025-supplement: Supplementary Tables S1 and S3; model-execution-20261009-source-oconnell2023: Table 1; model-execution-20261009-source-franzoso2025-table-s2: Table S2; articles: Methods, Discussion, Funding and Conflicts of interest; model-execution-20261011-source-marangoni2026-genepi-supplement: Table S1; model-execution-20261011-source-marangoni2026-genepi: Competing interest; model-execution-20261011-source-hu2026-dnascope-hybrid: Table 2, Conflict of interest; model-execution-20261011-source-yu2026-fp8-genomeocean: Tables 3 and 4, author affiliations

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Version: genepi_supplinfo_rev_bbag001.pdf from the Europe PMC supplementary files of PMC12832024
Retrieved: 2026-10-11T21:42:45Z

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Archive member: genepi_supplinfo_rev_bbag001.pdf

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FP8 Inference in Genomic Foundation Models: Theoretical vs. Realized Speedups on GenomeOcean

Original source ↗

amp-source-dragen-supplementary-tables: result amp-result-dragen-hg002-phase4-runtime; model-execution-20261009-source-samarakoon2025-supplement: Supplementary Tables S1 and S3; model-execution-20261009-source-oconnell2023: Table 1; model-execution-20261009-source-franzoso2025-table-s2: Table S2; articles: Methods, Discussion, Funding and Conflicts of interest; model-execution-20261011-source-marangoni2026-genepi-supplement: Table S1; model-execution-20261011-source-marangoni2026-genepi: Competing interest; model-execution-20261011-source-hu2026-dnascope-hybrid: Table 2, Conflict of interest; model-execution-20261011-source-yu2026-fp8-genomeocean: Tables 3 and 4, author affiliations

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Version: bioRxiv preprint version 1, posted 2026-08-14 (PDF footer); bioRxiv API date 2026-08-18
Retrieved: 2026-10-11T21:42:49Z

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Hash scope: bioRxiv stamps each PDF download, so artifact_sha256 describes one retrieval (a second download differed in 40 bytes). The pdftotext -layout text layer (poppler) of both downloads has SHA-256 bec6e695ce46c4ebd6692e01a1a93167e212dffbb97b6558f1da88b1eb453501.

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Release 2026-10-22-1b7cf027e4f6 · Record review: source checked

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Stable ID: metadata-correction-7738c2859b8d725359fe

field
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previous value
Three published execution benchmarks are linked, alongside the DRAGEN 4.2 developer total runtime for HG002 (1,838.5 seconds). All measure conventional variant-calling pipelines; none measures a genomic foundation model. None prints repeated runs, measured peak memory or accuracy next to runtime, so they do not show reproducibility, and hardware differs within each comparison, so differences mix software and hardware. On ten WGS samples run by a University of Oslo and Oslo University Hospital group with no declared competing interests (Samarakoon et al. 2025), read mapping plus HaplotypeCaller for NA12878 (47.55x) took 2,317.7 minutes on a CPU-only GATK pipeline, 123.45 minutes with Parabricks on four L4 GPUs, 78.12 on four A100 GPUs, 54.22 on eight H100 GPUs and 60.29 with DRAGEN v4.2. On the same H100 machine, Parabricks DeepVariant took 14.58 minutes for NA12878 with the version the pipeline used (printed 4.1.0-1; Methods say 4.3.0-1) and 16.05 minutes with the updated version (printed 4.3.0-1; Discussion says 4.3.1-1). On one HG002 30x genome on Google Cloud (O'Connell et al. 2023; the authors' employer funded the study and is an NVIDIA, AWS and Google alliance partner), HaplotypeCaller took 38.8 hours and cost 67.9 USD on a 32-vCPU machine and 0.59 hours and 17.5 USD on eight A100 GPUs, while the somatic caller LoFreq cost 8.1 USD on the CPU machine and 19 to 30.1 USD on 2 to 8 A100 GPUs. On Google Cloud machines of similar hourly cost (Franzoso et al. 2025, no declared conflicts), Sentieon DNASeq took 0:14:00 to 0:16:00 per exome at 0.82 to 1.03 USD and 3:00:00 to 3:50:00 per genome at 8.02 to 10.7 USD, and Parabricks Germline on one T4 GPU took 0:10:00 to 0:14:00 per exome at 0.71 to 0.93 USD and 4:06:00 to 4:40:00 per genome at 8.13 to 10.6 USD; costs exclude the Sentieon licence, and two genome runtime cells that cannot be genome runtimes are disputed and left out of these ranges. Each comparison is one run per sample on at most ten public samples, and costs are list prices at the time of each study.
value
Eight published execution benchmarks are linked, alongside the DRAGEN 4.2 developer total runtime for HG002 (1,838.5 seconds); two are withheld pending source concerns (see the end of this summary). Of the six active benchmarks, five measure conventional variant-calling pipelines and one measures inference of a genomic foundation model on microbial genomes, outside any diagnostic workflow. Only the foundation-model benchmark prints spread over repeated runs (five trials); none reruns a variant-calling pipeline to measure concordance of the calls, none prints variant-calling accuracy in the same table as runtime, and hardware differs within most comparisons, so differences mix software and hardware. On ten WGS samples run by a University of Oslo and Oslo University Hospital group with no declared competing interests (Samarakoon et al. 2025), read mapping plus HaplotypeCaller for NA12878 (47.55x) took 2,317.7 minutes on a CPU-only GATK pipeline, 123.45 minutes with Parabricks on four L4 GPUs, 78.12 on four A100 GPUs, 54.22 on eight H100 GPUs and 60.29 with DRAGEN v4.2. On the same H100 machine, Parabricks DeepVariant took 14.58 minutes for NA12878 with the version the pipeline used (printed 4.1.0-1; Methods say 4.3.0-1) and 16.05 minutes with the updated version (printed 4.3.0-1; Discussion says 4.3.1-1). On one HG002 30x genome on Google Cloud (O'Connell et al. 2023; the authors' employer funded the study and is an NVIDIA, AWS and Google alliance partner), HaplotypeCaller took 38.8 hours and cost 67.9 USD on a 32-vCPU machine and 0.59 hours and 17.5 USD on eight A100 GPUs, while the somatic caller LoFreq cost 8.1 USD on the CPU machine and 19 to 30.1 USD on 2 to 8 A100 GPUs. On Google Cloud machines of similar hourly cost (Franzoso et al. 2025, no declared conflicts), Sentieon DNASeq took 0:14:00 to 0:16:00 per exome at 0.82 to 1.03 USD and 3:00:00 to 3:50:00 per genome at 8.02 to 10.7 USD, and Parabricks Germline on one T4 GPU took 0:10:00 to 0:14:00 per exome at 0.71 to 0.93 USD and 4:06:00 to 4:40:00 per genome at 8.13 to 10.6 USD; costs exclude the Sentieon licence, and two genome runtime cells that cannot be genome runtimes are disputed and left out of these ranges. On human WGS at five read depths on the HPC nodes of a regional genome project (Marangoni et al. 2026; the GeNePi developers, no declared competing interests; one unnamed sample per depth), a 30x genome took 17h with the CPU GATK equivalent and 1h 36m, 42 m and 30m with Parabricks v4.3.0 on two V100, two A100 and four A100 GPUs, and a 100x genome 60h, 6h 30m, 2h 30m and 2h 06m. On one 120-vCPU Azure instance (Hu et al. 2026; all authors employed by Sentieon), DNAscope took 18.9 minutes for 30x Illumina, DNAscope LongRead 41.2 minutes for 30x PacBio HiFi and DNAscope Hybrid 85.8 minutes for 10x PacBio HiFi plus 35x Illumina, at 1.1, 2.5 and 5.2 USD on demand excluding the licence; each pipeline had different input data, so the three are not a ranking. For GenomeOcean on one H100 (Yu et al. 2026; two authors are at the DOE Joint Genome Institute, which develops GenomeOcean; GTDB bacterial genomes; mean and standard deviation over five trials), embedding extraction with the 4B model ran at 21,386 ± 126 input tokens per second with 72.14 GB peak GPU memory in BF16 and 22,401 ± 204 with 67.91 GB with FP8 weights, and generation ran at 1818.79 ± 7.95 generated tokens per second in BF16 and 2169.04 ± 24.30 with FP8 weights, activations and KV cache. No active linked result measures variant-calling accuracy against a truth set; the GenomeOcean ARI values score metagenomic binning against GTDB species labels. The two withheld studies are Zheng et al. 2026 (Clair3 developers; Clair3 and DeepVariant on HG003 long reads), whose supplementary runtimes, DeepVariant version and DeepVariant accuracy differ from its Results text and whose accuracy uses one GIAB sample's v4.2.1 confident regions, which leave out the hardest regions; and Aspidova et al. 2026 (ModernGENA and GENA-LM developers; four DNA language model families on one A100), whose printed tokens per second are far too low for its batch sizes. Apart from the five GenomeOcean trials, each comparison prints one value per sample and set-up on at most ten samples, and costs are list prices at the time of each study.
source locator
amp-source-dragen-supplementary-tables: result amp-result-dragen-hg002-phase4-runtime; model-execution-20261009-source-samarakoon2025-supplement: Supplementary Tables S1 and S3; model-execution-20261009-source-oconnell2023: Table 1; model-execution-20261009-source-franzoso2025-table-s2: Table S2; articles: Methods, Discussion, Funding and Conflicts of interest; model-execution-20261011-source-marangoni2026-genepi-supplement: Table S1; model-execution-20261011-source-marangoni2026-genepi: Competing interest; model-execution-20261011-source-hu2026-dnascope-hybrid: Table 2, Conflict of interest; model-execution-20261011-source-yu2026-fp8-genomeocean: Tables 3 and 4, author affiliations
review
method: automated-source-review; method note: Previous value copied byte for byte from the stored summary on origin/main; new value is the reviewer's approved summary text in docs/reviews/use-cases/diagnostic-genomics-model-execution-2026-10-12.md.; reviewer: claude; reviewer note: Claude (Opus 5.5) review agent reviewer-exec, independent of the collector uc-execution; no human review claimed; reviewed at: 2026-10-12T07:50:32Z; note: Summary text replaced as approved in the review; the previous value is kept here.
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