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Configuration

ClairS-TO SS v0.4.0, tumour-only, Illumina (Chen et al. 2025)

ClairS-TO SS v0.4.0, tumour-only, Illumina: Model trained on synthetic tumours only (GIAB HG001/HG002 for ONT; HG003/HG004 for PacBio and Illumina); default panels of normals (gnomAD r2.1, dbSNP v138, 1000 Genomes PoN, CoLoRSdb) and hard filters; short-read runs omit long-read-specific filters.

2 evaluations · 14 results

Overview

An explanatory profile has not yet been reviewed for this record.

Consult the linked sources for architecture or protocol details. Missing evidence is not evidence of a missing capability.

Evaluations and results

2 evaluations · 14 results. Different protocols are not a single leaderboard.

Dataset: COLO829 tumour Illumina NovaSeq 6000 WGS (ClairS-TO benchmark)

Sorted by AUPRC (indel only, tumour-only, 50x tumour coverage) (higher is better). The best value in each column is highlighted. Decimals are rounded for display; each value links to the printed value and its source.

Tested configurationProtocol and datasetAUPRC (indel only, tumour-only, 50x tumour coverage)AUPRC (SNV only, tumour-only, 50x tumour coverage)F1 (indel only, tumour-only, 50x tumour coverage, at the best-F1 threshold)F1 (SNV only, tumour-only, 50x tumour coverage, at the best-F1 threshold)False negatives (indel only, tumour-only, 50x tumour coverage, at the best-F1 threshold)False negatives (SNV only, tumour-only, 50x tumour coverage, at the best-F1 threshold)False positives (indel only, tumour-only, 50x tumour coverage, at the best-F1 threshold)False positives (SNV only, tumour-only, 50x tumour coverage, at the best-F1 threshold)Precision (indel only, tumour-only, 50x tumour coverage, at the best-F1 threshold)Precision (SNV only, tumour-only, 50x tumour coverage, at the best-F1 threshold)Recall (indel only, tumour-only, 50x tumour coverage, at the best-F1 threshold)Recall (SNV only, tumour-only, 50x tumour coverage, at the best-F1 threshold)True positives (indel only, tumour-only, 50x tumour coverage, at the best-F1 threshold)True positives (SNV only, tumour-only, 50x tumour coverage, at the best-F1 threshold)
ClairS-TO SS v0.4.0, tumour-only, Illumina (Chen et al. 2025)EvaluationIllumina COLO829 tumour-only, 50x, somatic indels (Chen et al. 2025 Supplementary Table 7b)0.242Not reported0.293Not reported384Not reported1,210Not reported0.215Not reported0.463Not reported331Not reported
ClairS-TO SS v0.4.0, tumour-only, Illumina (Chen et al. 2025)EvaluationIllumina COLO829 tumour-only, 50x, somatic SNVs (Chen et al. 2025 Supplementary Table 7b)Not reported0.623Not reported0.765Not reported4,520Not reported17,421Not reported0.672Not reported0.888Not reported35,712
All 14 result rows with coverage, uncertainty and sources
Filter evaluations

Applied filters: All linked evaluations

Exact evaluated configurations and original reported results
Tested configurationProtocol and datasetFindingEvidence and details
Configuration: ClairS-TO SS v0.4.0, tumour-only, Illumina (Chen et al. 2025)Protocol: Illumina COLO829 tumour-only, 50x, somatic indels (Chen et al. 2025 Supplementary Table 7b)
Dataset: COLO829 tumour Illumina NovaSeq 6000 WGS (ClairS-TO benchmark)
0.242 AUPRC (indel only, tumour-only, 50x tumour coverage)
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

ClairS-TO SS on illumina-colo829 tumour-only Indel (Chen et al. 2025)

somatic-clairs-to-20261011-protocol-illumina-colo829-indel

Aggregation: Not reported

ClairS-TO: a deep-learning method for long-read tumor-only somatic small variant calling; ClairS-TO Supplementary Information (Supplementary Tables 1-8 and command lines); ClairS-TO Source Data workbook · Supplementary Table 7b, Dataset 'COLO829', Caller 'ClairS-TO SS', Tumor coverage '50x', Type 'Indel', column 'AUPRC'
Configuration: ClairS-TO SS v0.4.0, tumour-only, Illumina (Chen et al. 2025)Protocol: Illumina COLO829 tumour-only, 50x, somatic indels (Chen et al. 2025 Supplementary Table 7b)
Dataset: COLO829 tumour Illumina NovaSeq 6000 WGS (ClairS-TO benchmark)
0.293 F1 (indel only, tumour-only, 50x tumour coverage, at the best-F1 threshold)
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

ClairS-TO SS on illumina-colo829 tumour-only Indel (Chen et al. 2025)

somatic-clairs-to-20261011-protocol-illumina-colo829-indel

Aggregation: Not reported

ClairS-TO: a deep-learning method for long-read tumor-only somatic small variant calling; ClairS-TO Supplementary Information (Supplementary Tables 1-8 and command lines); ClairS-TO Source Data workbook · Supplementary Table 7b, Dataset 'COLO829', Caller 'ClairS-TO SS', Tumor coverage '50x', Type 'Indel', column 'F1-score'
Configuration: ClairS-TO SS v0.4.0, tumour-only, Illumina (Chen et al. 2025)Protocol: Illumina COLO829 tumour-only, 50x, somatic indels (Chen et al. 2025 Supplementary Table 7b)
Dataset: COLO829 tumour Illumina NovaSeq 6000 WGS (ClairS-TO benchmark)
384 False negatives (indel only, tumour-only, 50x tumour coverage, at the best-F1 threshold)
count · lower

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

ClairS-TO SS on illumina-colo829 tumour-only Indel (Chen et al. 2025)

somatic-clairs-to-20261011-protocol-illumina-colo829-indel

Aggregation: Not reported

ClairS-TO: a deep-learning method for long-read tumor-only somatic small variant calling; ClairS-TO Supplementary Information (Supplementary Tables 1-8 and command lines); ClairS-TO Source Data workbook · Supplementary Table 7b, Dataset 'COLO829', Caller 'ClairS-TO SS', Tumor coverage '50x', Type 'Indel', column 'FN'
Configuration: ClairS-TO SS v0.4.0, tumour-only, Illumina (Chen et al. 2025)Protocol: Illumina COLO829 tumour-only, 50x, somatic indels (Chen et al. 2025 Supplementary Table 7b)
Dataset: COLO829 tumour Illumina NovaSeq 6000 WGS (ClairS-TO benchmark)
1,210 False positives (indel only, tumour-only, 50x tumour coverage, at the best-F1 threshold)
count · lower

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

ClairS-TO SS on illumina-colo829 tumour-only Indel (Chen et al. 2025)

somatic-clairs-to-20261011-protocol-illumina-colo829-indel

Aggregation: Not reported

ClairS-TO: a deep-learning method for long-read tumor-only somatic small variant calling; ClairS-TO Supplementary Information (Supplementary Tables 1-8 and command lines); ClairS-TO Source Data workbook · Supplementary Table 7b, Dataset 'COLO829', Caller 'ClairS-TO SS', Tumor coverage '50x', Type 'Indel', column 'FP'
Configuration: ClairS-TO SS v0.4.0, tumour-only, Illumina (Chen et al. 2025)Protocol: Illumina COLO829 tumour-only, 50x, somatic indels (Chen et al. 2025 Supplementary Table 7b)
Dataset: COLO829 tumour Illumina NovaSeq 6000 WGS (ClairS-TO benchmark)
0.215 Precision (indel only, tumour-only, 50x tumour coverage, at the best-F1 threshold)
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

ClairS-TO SS on illumina-colo829 tumour-only Indel (Chen et al. 2025)

somatic-clairs-to-20261011-protocol-illumina-colo829-indel

Aggregation: Not reported

ClairS-TO: a deep-learning method for long-read tumor-only somatic small variant calling; ClairS-TO Supplementary Information (Supplementary Tables 1-8 and command lines); ClairS-TO Source Data workbook · Supplementary Table 7b, Dataset 'COLO829', Caller 'ClairS-TO SS', Tumor coverage '50x', Type 'Indel', column 'Precision'
Configuration: ClairS-TO SS v0.4.0, tumour-only, Illumina (Chen et al. 2025)Protocol: Illumina COLO829 tumour-only, 50x, somatic indels (Chen et al. 2025 Supplementary Table 7b)
Dataset: COLO829 tumour Illumina NovaSeq 6000 WGS (ClairS-TO benchmark)
0.463 Recall (indel only, tumour-only, 50x tumour coverage, at the best-F1 threshold)
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

ClairS-TO SS on illumina-colo829 tumour-only Indel (Chen et al. 2025)

somatic-clairs-to-20261011-protocol-illumina-colo829-indel

Aggregation: Not reported

ClairS-TO: a deep-learning method for long-read tumor-only somatic small variant calling; ClairS-TO Supplementary Information (Supplementary Tables 1-8 and command lines); ClairS-TO Source Data workbook · Supplementary Table 7b, Dataset 'COLO829', Caller 'ClairS-TO SS', Tumor coverage '50x', Type 'Indel', column 'Recall'
Configuration: ClairS-TO SS v0.4.0, tumour-only, Illumina (Chen et al. 2025)Protocol: Illumina COLO829 tumour-only, 50x, somatic indels (Chen et al. 2025 Supplementary Table 7b)
Dataset: COLO829 tumour Illumina NovaSeq 6000 WGS (ClairS-TO benchmark)
331 True positives (indel only, tumour-only, 50x tumour coverage, at the best-F1 threshold)
count · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

ClairS-TO SS on illumina-colo829 tumour-only Indel (Chen et al. 2025)

somatic-clairs-to-20261011-protocol-illumina-colo829-indel

Aggregation: Not reported

ClairS-TO: a deep-learning method for long-read tumor-only somatic small variant calling; ClairS-TO Supplementary Information (Supplementary Tables 1-8 and command lines); ClairS-TO Source Data workbook · Supplementary Table 7b, Dataset 'COLO829', Caller 'ClairS-TO SS', Tumor coverage '50x', Type 'Indel', column 'TP'
Configuration: ClairS-TO SS v0.4.0, tumour-only, Illumina (Chen et al. 2025)Protocol: Illumina COLO829 tumour-only, 50x, somatic SNVs (Chen et al. 2025 Supplementary Table 7b)
Dataset: COLO829 tumour Illumina NovaSeq 6000 WGS (ClairS-TO benchmark)
0.623 AUPRC (SNV only, tumour-only, 50x tumour coverage)
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

ClairS-TO SS on illumina-colo829 tumour-only SNV (Chen et al. 2025)

somatic-clairs-to-20261011-protocol-illumina-colo829-snv

Aggregation: Not reported

ClairS-TO: a deep-learning method for long-read tumor-only somatic small variant calling; ClairS-TO Supplementary Information (Supplementary Tables 1-8 and command lines); ClairS-TO Source Data workbook · Supplementary Table 7b, Dataset 'COLO829', Caller 'ClairS-TO SS', Tumor coverage '50x', Type 'SNV', column 'AUPRC'
Configuration: ClairS-TO SS v0.4.0, tumour-only, Illumina (Chen et al. 2025)Protocol: Illumina COLO829 tumour-only, 50x, somatic SNVs (Chen et al. 2025 Supplementary Table 7b)
Dataset: COLO829 tumour Illumina NovaSeq 6000 WGS (ClairS-TO benchmark)
0.765 F1 (SNV only, tumour-only, 50x tumour coverage, at the best-F1 threshold)
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

ClairS-TO SS on illumina-colo829 tumour-only SNV (Chen et al. 2025)

somatic-clairs-to-20261011-protocol-illumina-colo829-snv

Aggregation: Not reported

ClairS-TO: a deep-learning method for long-read tumor-only somatic small variant calling; ClairS-TO Supplementary Information (Supplementary Tables 1-8 and command lines); ClairS-TO Source Data workbook · Supplementary Table 7b, Dataset 'COLO829', Caller 'ClairS-TO SS', Tumor coverage '50x', Type 'SNV', column 'F1-score'
Configuration: ClairS-TO SS v0.4.0, tumour-only, Illumina (Chen et al. 2025)Protocol: Illumina COLO829 tumour-only, 50x, somatic SNVs (Chen et al. 2025 Supplementary Table 7b)
Dataset: COLO829 tumour Illumina NovaSeq 6000 WGS (ClairS-TO benchmark)
4,520 False negatives (SNV only, tumour-only, 50x tumour coverage, at the best-F1 threshold)
count · lower

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

ClairS-TO SS on illumina-colo829 tumour-only SNV (Chen et al. 2025)

somatic-clairs-to-20261011-protocol-illumina-colo829-snv

Aggregation: Not reported

ClairS-TO: a deep-learning method for long-read tumor-only somatic small variant calling; ClairS-TO Supplementary Information (Supplementary Tables 1-8 and command lines); ClairS-TO Source Data workbook · Supplementary Table 7b, Dataset 'COLO829', Caller 'ClairS-TO SS', Tumor coverage '50x', Type 'SNV', column 'FN'
Configuration: ClairS-TO SS v0.4.0, tumour-only, Illumina (Chen et al. 2025)Protocol: Illumina COLO829 tumour-only, 50x, somatic SNVs (Chen et al. 2025 Supplementary Table 7b)
Dataset: COLO829 tumour Illumina NovaSeq 6000 WGS (ClairS-TO benchmark)
17,421 False positives (SNV only, tumour-only, 50x tumour coverage, at the best-F1 threshold)
count · lower

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

ClairS-TO SS on illumina-colo829 tumour-only SNV (Chen et al. 2025)

somatic-clairs-to-20261011-protocol-illumina-colo829-snv

Aggregation: Not reported

ClairS-TO: a deep-learning method for long-read tumor-only somatic small variant calling; ClairS-TO Supplementary Information (Supplementary Tables 1-8 and command lines); ClairS-TO Source Data workbook · Supplementary Table 7b, Dataset 'COLO829', Caller 'ClairS-TO SS', Tumor coverage '50x', Type 'SNV', column 'FP'
Configuration: ClairS-TO SS v0.4.0, tumour-only, Illumina (Chen et al. 2025)Protocol: Illumina COLO829 tumour-only, 50x, somatic SNVs (Chen et al. 2025 Supplementary Table 7b)
Dataset: COLO829 tumour Illumina NovaSeq 6000 WGS (ClairS-TO benchmark)
0.672 Precision (SNV only, tumour-only, 50x tumour coverage, at the best-F1 threshold)
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

ClairS-TO SS on illumina-colo829 tumour-only SNV (Chen et al. 2025)

somatic-clairs-to-20261011-protocol-illumina-colo829-snv

Aggregation: Not reported

ClairS-TO: a deep-learning method for long-read tumor-only somatic small variant calling; ClairS-TO Supplementary Information (Supplementary Tables 1-8 and command lines); ClairS-TO Source Data workbook · Supplementary Table 7b, Dataset 'COLO829', Caller 'ClairS-TO SS', Tumor coverage '50x', Type 'SNV', column 'Precision'
Configuration: ClairS-TO SS v0.4.0, tumour-only, Illumina (Chen et al. 2025)Protocol: Illumina COLO829 tumour-only, 50x, somatic SNVs (Chen et al. 2025 Supplementary Table 7b)
Dataset: COLO829 tumour Illumina NovaSeq 6000 WGS (ClairS-TO benchmark)
0.888 Recall (SNV only, tumour-only, 50x tumour coverage, at the best-F1 threshold)
fraction · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

ClairS-TO SS on illumina-colo829 tumour-only SNV (Chen et al. 2025)

somatic-clairs-to-20261011-protocol-illumina-colo829-snv

Aggregation: Not reported

ClairS-TO: a deep-learning method for long-read tumor-only somatic small variant calling; ClairS-TO Supplementary Information (Supplementary Tables 1-8 and command lines); ClairS-TO Source Data workbook · Supplementary Table 7b, Dataset 'COLO829', Caller 'ClairS-TO SS', Tumor coverage '50x', Type 'SNV', column 'Recall'
Configuration: ClairS-TO SS v0.4.0, tumour-only, Illumina (Chen et al. 2025)Protocol: Illumina COLO829 tumour-only, 50x, somatic SNVs (Chen et al. 2025 Supplementary Table 7b)
Dataset: COLO829 tumour Illumina NovaSeq 6000 WGS (ClairS-TO benchmark)
35,712 True positives (SNV only, tumour-only, 50x tumour coverage, at the best-F1 threshold)
count · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Author-reported evaluation · Source checked
Methods, coverage and source

ClairS-TO SS on illumina-colo829 tumour-only SNV (Chen et al. 2025)

somatic-clairs-to-20261011-protocol-illumina-colo829-snv

Aggregation: Not reported

ClairS-TO: a deep-learning method for long-read tumor-only somatic small variant calling; ClairS-TO Supplementary Information (Supplementary Tables 1-8 and command lines); ClairS-TO Source Data workbook · Supplementary Table 7b, Dataset 'COLO829', Caller 'ClairS-TO SS', Tumor coverage '50x', Type 'SNV', column 'TP'

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

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Technical metadata and extraction receipts

Stable ID: somatic-clairs-to-20261011-config-clairs-to-ss-illumina

areas
dna-genomes
contexts
clinical_research
method types
supervised_machine_learning
reported name
ClairS-TO SS
version
v0.4.0
foundation model eligible
false
parameters
Model trained on synthetic tumours only (GIAB HG001/HG002 for ONT; HG003/HG004 for PacBio and Illumina); default panels of normals (gnomAD r2.1, dbSNP v138, 1000 Genomes PoN, CoLoRSdb) and hard filters; short-read runs omit long-read-specific filters
access reuse
Public open-source software and released models
source locator
Supplementary Information 'Command lines used'; Supplementary Tables 2 and 7 row labels
provenance note
ClairS-TO SS as run on Illumina tumour-only data in the cited comparison.
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