rewirebio.iobenchmarks
Contested result

DeepSomatic and Majority-vote consensus of somatic callers: A benchmarking study of individual somatic variant callers and voting-based ensembles for whole-exome sequencing reverses the order

  • Medium severity
  • Not yet reviewed
  • Ordering reversal
  • Different tasks across studies

A benchmarking study of individual somatic variant callers and voting-based ensembles for whole-exome sequencing ranks DeepSomatic above Majority-vote consensus of somatic callers in 8 of 10 comparisons; other studies rank Majority-vote consensus of somatic callers above DeepSomatic in 20 of 20.

An automatic lead, not a finding of error. The results below are shown as published, everywhere on the site, until a reviewer decides otherwise.

Which studies agree

Prospectively frozen external… ranks Majority-vote consensus of somatic callers above DeepSomatic in all 20 comparisons that are not ties (4 are ties). A benchmarking study of individual… ranks DeepSomatic above Majority-vote consensus of somatic callers in 8 of its 12 comparisons and Majority-vote consensus of somatic callers higher in 2; 2 are ties.

Papers grouped by which system they rank higher: Majority-vote consensus of somatic callers or DeepSomaticRank Majority-vote consensus of somatic callers higher: Prospectively frozen external…. Rank DeepSomatic higher: A benchmarking study of individual… (disagrees). Mixed: none.Rank Majority-vote consensus …MixedRank DeepSomatic higherProspectivelyfrozen external…Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant callingA benchmarking studyof individual…A benchmarking study of individual somatic variant callers and voting-based ensembles for whole-exome sequencing
  • Rank Majority-vote consensus of somatic callers higher (1): Prospectively frozen external…
  • Rank DeepSomatic higher (1): A benchmarking study of individual… (disagrees)
  • Mixed (0): none

Each paper sits where at least two thirds of its comparisons point; Mixed means neither model reaches two thirds. The larger, outlined dot is the paper that disagrees.

Comparisons in which each paper scores Majority-vote consensus of somatic callers or DeepSomatic higherA benchmarking study of individual… (disagrees): Majority-vote consensus of somatic callers higher in 2, DeepSomatic higher in 8, 2 ties. Prospectively frozen external…: Majority-vote consensus of somatic callers higher in 20, DeepSomatic higher in 0, 4 ties.Disagrees: A benchmarking study of individual…A benchmarking study of individual somatic variant callers and voting-based ensembles for whole-exome sequencing2 Majority-vote consensus of somatic callers higher22 tie28 DeepSomatic higher8Prospectively frozen external…Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling20 Majority-vote consensus of somatic callers higher204 tie4
Majority-vote consensus of somatic callers higherTieDeepSomatic higherNumbers are counts of comparisons; the outlined bar is the paper that disagrees.
Papers compared (2)
PaperRoleRanks Majority-vote consensus of somatic callers higherRanks DeepSomatic higherTies
A benchmarking study of individual somatic variant callers and voting-based ensembles for whole-exome sequencing and 1 more record · DOIDisagrees282
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling and 1 more record · DOIAgrees2004
Comparisons in A benchmarking study of individual… (12)
ProtocolDatasetMetricMajority-vote consensus of somatic callersDeepSomaticHigher
SEQC2 HCC1395 WES validation sample, somatic indels (Guille et al. 2025 Table S7)SEQC2 HCC1395/HCC1395BL WES, Fudan replicate (WES_FD_T_1), high-confidence regionsF1 (indel only), fraction0.7520.812DeepSomatic
SEQC2 HCC1395 WES validation sample, somatic indels (Guille et al. 2025 Table S7)SEQC2 HCC1395/HCC1395BL WES, Fudan replicate (WES_FD_T_1), high-confidence regionsFalse positives (indel only), count910Majority-vote consensus of somatic callers
SEQC2 HCC1395 WES validation sample, somatic indels (Guille et al. 2025 Table S7)SEQC2 HCC1395/HCC1395BL WES, Fudan replicate (WES_FD_T_1), high-confidence regionsFalse positive rate (indel only), fraction5.98e-86.64e-8Majority-vote consensus of somatic callers
SEQC2 HCC1395 WES validation sample, somatic indels (Guille et al. 2025 Table S7)SEQC2 HCC1395/HCC1395BL WES, Fudan replicate (WES_FD_T_1), high-confidence regionsPrecision (indel only), fraction0.7950.804DeepSomatic
SEQC2 HCC1395 WES validation sample, somatic indels (Guille et al. 2025 Table S7)SEQC2 HCC1395/HCC1395BL WES, Fudan replicate (WES_FD_T_1), high-confidence regionsRecall (indel only), fraction0.760.82DeepSomatic
SEQC2 HCC1395 WES validation sample, somatic indels (Guille et al. 2025 Table S7)SEQC2 HCC1395/HCC1395BL WES, Fudan replicate (WES_FD_T_1), high-confidence regionsTrue positives (indel only), count3841DeepSomatic
SEQC2 HCC1395 WES validation sample, somatic SNVs (Guille et al. 2025 Table S7)SEQC2 HCC1395/HCC1395BL WES, Fudan replicate (WES_FD_T_1), high-confidence regionsF1 (SNV only), fraction0.8810.901DeepSomatic
SEQC2 HCC1395 WES validation sample, somatic SNVs (Guille et al. 2025 Table S7)SEQC2 HCC1395/HCC1395BL WES, Fudan replicate (WES_FD_T_1), high-confidence regionsFalse positives (SNV only), count5834DeepSomatic
SEQC2 HCC1395 WES validation sample, somatic SNVs (Guille et al. 2025 Table S7)SEQC2 HCC1395/HCC1395BL WES, Fudan replicate (WES_FD_T_1), high-confidence regionsFalse positive rate (SNV only), fraction3.85e-72.26e-7DeepSomatic
SEQC2 HCC1395 WES validation sample, somatic SNVs (Guille et al. 2025 Table S7)SEQC2 HCC1395/HCC1395BL WES, Fudan replicate (WES_FD_T_1), high-confidence regionsPrecision (SNV only), fraction0.9430.966DeepSomatic
SEQC2 HCC1395 WES validation sample, somatic SNVs (Guille et al. 2025 Table S7)SEQC2 HCC1395/HCC1395BL WES, Fudan replicate (WES_FD_T_1), high-confidence regionsRecall (SNV only), fraction0.8380.843Tie
SEQC2 HCC1395 WES validation sample, somatic SNVs (Guille et al. 2025 Table S7)SEQC2 HCC1395/HCC1395BL WES, Fudan replicate (WES_FD_T_1), high-confidence regionsTrue positives (SNV only), count972978Tie
Comparisons in Prospectively frozen external… (24)
ProtocolDatasetMetricMajority-vote consensus of somatic callersDeepSomaticHigher
HG008 all-benchmark region (sensitivity analysis), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 4)NIST/GIAB HG008 tumour-normal WGS (HG008-T pancreatic cancer cell line, matched normal), HG008-T draft somatic small-variant benchmark v0.3F1 (SNVs and indels, HG008 all-benchmark region), fraction0.7940.776Majority-vote consensus of somatic callers
HG008 all-benchmark region (sensitivity analysis), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 4)NIST/GIAB HG008 tumour-normal WGS (HG008-T pancreatic cancer cell line, matched normal), HG008-T draft somatic small-variant benchmark v0.3False negatives (SNVs and indels, HG008 all-benchmark region), count47106590Majority-vote consensus of somatic callers
HG008 all-benchmark region (sensitivity analysis), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 4)NIST/GIAB HG008 tumour-normal WGS (HG008-T pancreatic cancer cell line, matched normal), HG008-T draft somatic small-variant benchmark v0.3False positives (SNVs and indels, HG008 all-benchmark region), count7133Majority-vote consensus of somatic callers
HG008 all-benchmark region (sensitivity analysis), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 4)NIST/GIAB HG008 tumour-normal WGS (HG008-T pancreatic cancer cell line, matched normal), HG008-T draft somatic small-variant benchmark v0.3Precision (SNVs and indels, HG008 all-benchmark region), fraction0.9990.989Majority-vote consensus of somatic callers
HG008 all-benchmark region (sensitivity analysis), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 4)NIST/GIAB HG008 tumour-normal WGS (HG008-T pancreatic cancer cell line, matched normal), HG008-T draft somatic small-variant benchmark v0.3Recall (SNVs and indels, HG008 all-benchmark region), fraction0.7410.638Majority-vote consensus of somatic callers
HG008 all-benchmark region (sensitivity analysis), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 4)NIST/GIAB HG008 tumour-normal WGS (HG008-T pancreatic cancer cell line, matched normal), HG008-T draft somatic small-variant benchmark v0.3True positives (SNVs and indels, HG008 all-benchmark region), count1350011600Majority-vote consensus of somatic callers
HG008 primary region (nogermlineinterference), indels, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 2, Class 'INDEL')NIST/GIAB HG008 tumour-normal WGS (HG008-T pancreatic cancer cell line, matched normal), HG008-T draft somatic small-variant benchmark v0.3F1 (indel only, HG008 primary region), fraction0.8090.69Majority-vote consensus of somatic callers
HG008 primary region (nogermlineinterference), indels, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 2, Class 'INDEL')NIST/GIAB HG008 tumour-normal WGS (HG008-T pancreatic cancer cell line, matched normal), HG008-T draft somatic small-variant benchmark v0.3False negatives (indel only, HG008 primary region), count10802320Majority-vote consensus of somatic callers
HG008 primary region (nogermlineinterference), indels, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 2, Class 'INDEL')NIST/GIAB HG008 tumour-normal WGS (HG008-T pancreatic cancer cell line, matched normal), HG008-T draft somatic small-variant benchmark v0.3False positives (indel only, HG008 primary region), count228Majority-vote consensus of somatic callers
HG008 primary region (nogermlineinterference), indels, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 2, Class 'INDEL')NIST/GIAB HG008 tumour-normal WGS (HG008-T pancreatic cancer cell line, matched normal), HG008-T draft somatic small-variant benchmark v0.3Precision (indel only, HG008 primary region), fraction0.9990.989Tie
HG008 primary region (nogermlineinterference), indels, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 2, Class 'INDEL')NIST/GIAB HG008 tumour-normal WGS (HG008-T pancreatic cancer cell line, matched normal), HG008-T draft somatic small-variant benchmark v0.3Recall (indel only, HG008 primary region), fraction0.7810.529Majority-vote consensus of somatic callers
HG008 primary region (nogermlineinterference), indels, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 2, Class 'INDEL')NIST/GIAB HG008 tumour-normal WGS (HG008-T pancreatic cancer cell line, matched normal), HG008-T draft somatic small-variant benchmark v0.3True positives (indel only, HG008 primary region), count38602610Majority-vote consensus of somatic callers
HG008 primary region (nogermlineinterference), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 1)NIST/GIAB HG008 tumour-normal WGS (HG008-T pancreatic cancer cell line, matched normal), HG008-T draft somatic small-variant benchmark v0.3F1 (SNVs and indels, HG008 primary region), fraction0.9140.897Majority-vote consensus of somatic callers
HG008 primary region (nogermlineinterference), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 1)NIST/GIAB HG008 tumour-normal WGS (HG008-T pancreatic cancer cell line, matched normal), HG008-T draft somatic small-variant benchmark v0.3False negatives (SNVs and indels, HG008 primary region), count11902510Majority-vote consensus of somatic callers
HG008 primary region (nogermlineinterference), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 1)NIST/GIAB HG008 tumour-normal WGS (HG008-T pancreatic cancer cell line, matched normal), HG008-T draft somatic small-variant benchmark v0.3False positives (SNVs and indels, HG008 primary region), count5124Majority-vote consensus of somatic callers
HG008 primary region (nogermlineinterference), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 1)NIST/GIAB HG008 tumour-normal WGS (HG008-T pancreatic cancer cell line, matched normal), HG008-T draft somatic small-variant benchmark v0.3Precision (SNVs and indels, HG008 primary region), fraction10.989Majority-vote consensus of somatic callers
HG008 primary region (nogermlineinterference), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 1)NIST/GIAB HG008 tumour-normal WGS (HG008-T pancreatic cancer cell line, matched normal), HG008-T draft somatic small-variant benchmark v0.3Recall (SNVs and indels, HG008 primary region), fraction0.9150.821Majority-vote consensus of somatic callers
HG008 primary region (nogermlineinterference), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 1)NIST/GIAB HG008 tumour-normal WGS (HG008-T pancreatic cancer cell line, matched normal), HG008-T draft somatic small-variant benchmark v0.3True positives (SNVs and indels, HG008 primary region), count1280011500Majority-vote consensus of somatic callers
HG008 primary region (nogermlineinterference), SNVs, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 2, Class 'SNV')NIST/GIAB HG008 tumour-normal WGS (HG008-T pancreatic cancer cell line, matched normal), HG008-T draft somatic small-variant benchmark v0.3F1 (SNV only, HG008 primary region), fraction0.9850.984Tie
HG008 primary region (nogermlineinterference), SNVs, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 2, Class 'SNV')NIST/GIAB HG008 tumour-normal WGS (HG008-T pancreatic cancer cell line, matched normal), HG008-T draft somatic small-variant benchmark v0.3False negatives (SNV only, HG008 primary region), count113186Majority-vote consensus of somatic callers
HG008 primary region (nogermlineinterference), SNVs, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 2, Class 'SNV')NIST/GIAB HG008 tumour-normal WGS (HG008-T pancreatic cancer cell line, matched normal), HG008-T draft somatic small-variant benchmark v0.3False positives (SNV only, HG008 primary region), count396Majority-vote consensus of somatic callers
HG008 primary region (nogermlineinterference), SNVs, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 2, Class 'SNV')NIST/GIAB HG008 tumour-normal WGS (HG008-T pancreatic cancer cell line, matched normal), HG008-T draft somatic small-variant benchmark v0.3Precision (SNV only, HG008 primary region), fraction10.989Majority-vote consensus of somatic callers
HG008 primary region (nogermlineinterference), SNVs, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 2, Class 'SNV')NIST/GIAB HG008 tumour-normal WGS (HG008-T pancreatic cancer cell line, matched normal), HG008-T draft somatic small-variant benchmark v0.3Recall (SNV only, HG008 primary region), fraction0.9880.98Tie
HG008 primary region (nogermlineinterference), SNVs, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 2, Class 'SNV')NIST/GIAB HG008 tumour-normal WGS (HG008-T pancreatic cancer cell line, matched normal), HG008-T draft somatic small-variant benchmark v0.3True positives (SNV only, HG008 primary region), count89708890Tie

What disagrees

Other studies
rank Majority-vote consensus of somatic callers above DeepSomatic in 20 of 20 comparisons
This study
ranks DeepSomatic above Majority-vote consensus of somatic callers in 8 of 10 comparisons
Compared
DeepSomatic, Majority-vote consensus of somatic callers
Study that disagrees
A benchmarking study of individual somatic variant callers and voting-based ensembles for whole-exome sequencing, Guille et al. 2025, Supplementary Table S7 (validation dataset)
Other studies
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling, AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)
Rule
Ordering reversal; different tasks across studies
Model identity
Matched across studies partly through links not yet reviewed

The compared numbers

Each value links to its result record and source. Compare values within one protocol; the rule compares rankings, not raw values across protocols.

In the study that disagrees (20)
StudyToolProtocol or benchmarkMetricValue
A benchmarking study of individual somatic variant callers and voting-based ensembles for whole-exome sequencing; Guille et al. 2025, Supplementary Table S7 (validation dataset)DeepSomatic-WES 1.7.0 (Guille et al. 2025)SEQC2 HCC1395 WES validation sample, somatic indels (Guille et al. 2025 Table S7)F1 (indel only)0.812
A benchmarking study of individual somatic variant callers and voting-based ensembles for whole-exome sequencing; Guille et al. 2025, Supplementary Table S7 (validation dataset)DeepSomatic-WES 1.7.0 (Guille et al. 2025)SEQC2 HCC1395 WES validation sample, somatic indels (Guille et al. 2025 Table S7)False positives (indel only)10
A benchmarking study of individual somatic variant callers and voting-based ensembles for whole-exome sequencing; Guille et al. 2025, Supplementary Table S7 (validation dataset)DeepSomatic-WES 1.7.0 (Guille et al. 2025)SEQC2 HCC1395 WES validation sample, somatic indels (Guille et al. 2025 Table S7)False positive rate (indel only)6.64e-8
A benchmarking study of individual somatic variant callers and voting-based ensembles for whole-exome sequencing; Guille et al. 2025, Supplementary Table S7 (validation dataset)DeepSomatic-WES 1.7.0 (Guille et al. 2025)SEQC2 HCC1395 WES validation sample, somatic indels (Guille et al. 2025 Table S7)Precision (indel only)0.804
A benchmarking study of individual somatic variant callers and voting-based ensembles for whole-exome sequencing; Guille et al. 2025, Supplementary Table S7 (validation dataset)DeepSomatic-WES 1.7.0 (Guille et al. 2025)SEQC2 HCC1395 WES validation sample, somatic indels (Guille et al. 2025 Table S7)Recall (indel only)0.82
A benchmarking study of individual somatic variant callers and voting-based ensembles for whole-exome sequencing; Guille et al. 2025, Supplementary Table S7 (validation dataset)DeepSomatic-WES 1.7.0 (Guille et al. 2025)SEQC2 HCC1395 WES validation sample, somatic indels (Guille et al. 2025 Table S7)True positives (indel only)41
A benchmarking study of individual somatic variant callers and voting-based ensembles for whole-exome sequencing; Guille et al. 2025, Supplementary Table S7 (validation dataset)DeepSomatic-WES 1.7.0 (Guille et al. 2025)SEQC2 HCC1395 WES validation sample, somatic SNVs (Guille et al. 2025 Table S7)F1 (SNV only)0.901
A benchmarking study of individual somatic variant callers and voting-based ensembles for whole-exome sequencing; Guille et al. 2025, Supplementary Table S7 (validation dataset)DeepSomatic-WES 1.7.0 (Guille et al. 2025)SEQC2 HCC1395 WES validation sample, somatic SNVs (Guille et al. 2025 Table S7)False positives (SNV only)34
A benchmarking study of individual somatic variant callers and voting-based ensembles for whole-exome sequencing; Guille et al. 2025, Supplementary Table S7 (validation dataset)DeepSomatic-WES 1.7.0 (Guille et al. 2025)SEQC2 HCC1395 WES validation sample, somatic SNVs (Guille et al. 2025 Table S7)False positive rate (SNV only)2.26e-7
A benchmarking study of individual somatic variant callers and voting-based ensembles for whole-exome sequencing; Guille et al. 2025, Supplementary Table S7 (validation dataset)DeepSomatic-WES 1.7.0 (Guille et al. 2025)SEQC2 HCC1395 WES validation sample, somatic SNVs (Guille et al. 2025 Table S7)Precision (SNV only)0.966
A benchmarking study of individual somatic variant callers and voting-based ensembles for whole-exome sequencing; Guille et al. 2025, Supplementary Table S7 (validation dataset)Vote ensemble Mutect2, Strelka, Varscan2, at least 2 agree (Guille et al. 2025)SEQC2 HCC1395 WES validation sample, somatic indels (Guille et al. 2025 Table S7)False positives (indel only)9
A benchmarking study of individual somatic variant callers and voting-based ensembles for whole-exome sequencing; Guille et al. 2025, Supplementary Table S7 (validation dataset)Vote ensemble Mutect2, Strelka, Varscan2, at least 2 agree (Guille et al. 2025)SEQC2 HCC1395 WES validation sample, somatic indels (Guille et al. 2025 Table S7)False positive rate (indel only)5.98e-8
A benchmarking study of individual somatic variant callers and voting-based ensembles for whole-exome sequencing; Guille et al. 2025, Supplementary Table S7 (validation dataset)Vote ensemble Mutect2, Strelka, Varscan2, at least 2 agree (Guille et al. 2025)SEQC2 HCC1395 WES validation sample, somatic indels (Guille et al. 2025 Table S7)Precision (indel only)0.795
A benchmarking study of individual somatic variant callers and voting-based ensembles for whole-exome sequencing; Guille et al. 2025, Supplementary Table S7 (validation dataset)Vote ensemble Mutect2, Strelka, Pindel, Varscan2, at least 2 agree (Guille et al. 2025)SEQC2 HCC1395 WES validation sample, somatic indels (Guille et al. 2025 Table S7)F1 (indel only)0.752
A benchmarking study of individual somatic variant callers and voting-based ensembles for whole-exome sequencing; Guille et al. 2025, Supplementary Table S7 (validation dataset)Vote ensemble Mutect2, Strelka, Pindel, Varscan2, at least 2 agree (Guille et al. 2025)SEQC2 HCC1395 WES validation sample, somatic indels (Guille et al. 2025 Table S7)Recall (indel only)0.76
A benchmarking study of individual somatic variant callers and voting-based ensembles for whole-exome sequencing; Guille et al. 2025, Supplementary Table S7 (validation dataset)Vote ensemble Mutect2, Strelka, Pindel, Varscan2, at least 2 agree (Guille et al. 2025)SEQC2 HCC1395 WES validation sample, somatic indels (Guille et al. 2025 Table S7)True positives (indel only)38
A benchmarking study of individual somatic variant callers and voting-based ensembles for whole-exome sequencing; Guille et al. 2025, Supplementary Table S7 (validation dataset)Vote ensemble Lofreq, Muse, Mutect2, SomaticSniper, Strelka, Lancet, at least 3 agree (Guille et al. 2025)SEQC2 HCC1395 WES validation sample, somatic SNVs (Guille et al. 2025 Table S7)F1 (SNV only)0.881
A benchmarking study of individual somatic variant callers and voting-based ensembles for whole-exome sequencing; Guille et al. 2025, Supplementary Table S7 (validation dataset)Vote ensemble Lofreq, Muse, Mutect2, SomaticSniper, Strelka, Lancet, at least 3 agree (Guille et al. 2025)SEQC2 HCC1395 WES validation sample, somatic SNVs (Guille et al. 2025 Table S7)False positives (SNV only)58
A benchmarking study of individual somatic variant callers and voting-based ensembles for whole-exome sequencing; Guille et al. 2025, Supplementary Table S7 (validation dataset)Vote ensemble Lofreq, Muse, Mutect2, SomaticSniper, Strelka, Lancet, at least 3 agree (Guille et al. 2025)SEQC2 HCC1395 WES validation sample, somatic SNVs (Guille et al. 2025 Table S7)False positive rate (SNV only)3.85e-7
A benchmarking study of individual somatic variant callers and voting-based ensembles for whole-exome sequencing; Guille et al. 2025, Supplementary Table S7 (validation dataset)Vote ensemble Lofreq, Muse, Mutect2, SomaticSniper, Strelka, Lancet, at least 3 agree (Guille et al. 2025)SEQC2 HCC1395 WES validation sample, somatic SNVs (Guille et al. 2025 Table S7)Precision (SNV only)0.943
In the other studies (40)
StudyToolProtocol or benchmarkMetricValue
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)DeepSomatic 1.10.0, bundled WGS model (Hasan 2026)HG008 all-benchmark region (sensitivity analysis), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 4)F1 (SNVs and indels, HG008 all-benchmark region)0.776
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)DeepSomatic 1.10.0, bundled WGS model (Hasan 2026)HG008 all-benchmark region (sensitivity analysis), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 4)False negatives (SNVs and indels, HG008 all-benchmark region)6590
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)DeepSomatic 1.10.0, bundled WGS model (Hasan 2026)HG008 all-benchmark region (sensitivity analysis), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 4)False positives (SNVs and indels, HG008 all-benchmark region)133
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)DeepSomatic 1.10.0, bundled WGS model (Hasan 2026)HG008 all-benchmark region (sensitivity analysis), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 4)Precision (SNVs and indels, HG008 all-benchmark region)0.989
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)DeepSomatic 1.10.0, bundled WGS model (Hasan 2026)HG008 all-benchmark region (sensitivity analysis), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 4)Recall (SNVs and indels, HG008 all-benchmark region)0.638
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)DeepSomatic 1.10.0, bundled WGS model (Hasan 2026)HG008 all-benchmark region (sensitivity analysis), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 4)True positives (SNVs and indels, HG008 all-benchmark region)11600
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)DeepSomatic 1.10.0, bundled WGS model (Hasan 2026)HG008 primary region (nogermlineinterference), indels, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 2, Class 'INDEL')F1 (indel only, HG008 primary region)0.69
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)DeepSomatic 1.10.0, bundled WGS model (Hasan 2026)HG008 primary region (nogermlineinterference), indels, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 2, Class 'INDEL')False negatives (indel only, HG008 primary region)2320
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)DeepSomatic 1.10.0, bundled WGS model (Hasan 2026)HG008 primary region (nogermlineinterference), indels, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 2, Class 'INDEL')False positives (indel only, HG008 primary region)28
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)DeepSomatic 1.10.0, bundled WGS model (Hasan 2026)HG008 primary region (nogermlineinterference), indels, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 2, Class 'INDEL')Recall (indel only, HG008 primary region)0.529
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)DeepSomatic 1.10.0, bundled WGS model (Hasan 2026)HG008 primary region (nogermlineinterference), indels, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 2, Class 'INDEL')True positives (indel only, HG008 primary region)2610
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)DeepSomatic 1.10.0, bundled WGS model (Hasan 2026)HG008 primary region (nogermlineinterference), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 1)F1 (SNVs and indels, HG008 primary region)0.897
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)DeepSomatic 1.10.0, bundled WGS model (Hasan 2026)HG008 primary region (nogermlineinterference), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 1)False negatives (SNVs and indels, HG008 primary region)2510
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)DeepSomatic 1.10.0, bundled WGS model (Hasan 2026)HG008 primary region (nogermlineinterference), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 1)False positives (SNVs and indels, HG008 primary region)124
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)DeepSomatic 1.10.0, bundled WGS model (Hasan 2026)HG008 primary region (nogermlineinterference), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 1)Precision (SNVs and indels, HG008 primary region)0.989
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)DeepSomatic 1.10.0, bundled WGS model (Hasan 2026)HG008 primary region (nogermlineinterference), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 1)Recall (SNVs and indels, HG008 primary region)0.821
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)DeepSomatic 1.10.0, bundled WGS model (Hasan 2026)HG008 primary region (nogermlineinterference), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 1)True positives (SNVs and indels, HG008 primary region)11500
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)DeepSomatic 1.10.0, bundled WGS model (Hasan 2026)HG008 primary region (nogermlineinterference), SNVs, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 2, Class 'SNV')False negatives (SNV only, HG008 primary region)186
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)DeepSomatic 1.10.0, bundled WGS model (Hasan 2026)HG008 primary region (nogermlineinterference), SNVs, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 2, Class 'SNV')False positives (SNV only, HG008 primary region)96
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)DeepSomatic 1.10.0, bundled WGS model (Hasan 2026)HG008 primary region (nogermlineinterference), SNVs, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 2, Class 'SNV')Precision (SNV only, HG008 primary region)0.989
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)Majority of Mutect2, Strelka2 and DeepSomatic (at least two callers) (Hasan 2026)HG008 all-benchmark region (sensitivity analysis), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 4)F1 (SNVs and indels, HG008 all-benchmark region)0.794
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)Majority of Mutect2, Strelka2 and DeepSomatic (at least two callers) (Hasan 2026)HG008 primary region (nogermlineinterference), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 1)F1 (SNVs and indels, HG008 primary region)0.914
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)Strict intersection of Mutect2, Strelka2 and DeepSomatic (all three callers) (Hasan 2026)HG008 all-benchmark region (sensitivity analysis), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 4)False positives (SNVs and indels, HG008 all-benchmark region)7
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)Strict intersection of Mutect2, Strelka2 and DeepSomatic (all three callers) (Hasan 2026)HG008 all-benchmark region (sensitivity analysis), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 4)Precision (SNVs and indels, HG008 all-benchmark region)0.999
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)Strict intersection of Mutect2, Strelka2 and DeepSomatic (all three callers) (Hasan 2026)HG008 primary region (nogermlineinterference), indels, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 2, Class 'INDEL')False positives (indel only, HG008 primary region)2
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)Strict intersection of Mutect2, Strelka2 and DeepSomatic (all three callers) (Hasan 2026)HG008 primary region (nogermlineinterference), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 1)False positives (SNVs and indels, HG008 primary region)5
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)Strict intersection of Mutect2, Strelka2 and DeepSomatic (all three callers) (Hasan 2026)HG008 primary region (nogermlineinterference), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 1)Precision (SNVs and indels, HG008 primary region)1
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)Strict intersection of Mutect2, Strelka2 and DeepSomatic (all three callers) (Hasan 2026)HG008 primary region (nogermlineinterference), SNVs, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 2, Class 'SNV')False positives (SNV only, HG008 primary region)3
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)Strict intersection of Mutect2, Strelka2 and DeepSomatic (all three callers) (Hasan 2026)HG008 primary region (nogermlineinterference), SNVs, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 2, Class 'SNV')Precision (SNV only, HG008 primary region)1
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)Union of Mutect2, Strelka2 and DeepSomatic (at least one caller) (Hasan 2026)HG008 all-benchmark region (sensitivity analysis), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 4)False negatives (SNVs and indels, HG008 all-benchmark region)4710
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)Union of Mutect2, Strelka2 and DeepSomatic (at least one caller) (Hasan 2026)HG008 all-benchmark region (sensitivity analysis), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 4)Recall (SNVs and indels, HG008 all-benchmark region)0.741
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)Union of Mutect2, Strelka2 and DeepSomatic (at least one caller) (Hasan 2026)HG008 all-benchmark region (sensitivity analysis), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 4)True positives (SNVs and indels, HG008 all-benchmark region)13500
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)Union of Mutect2, Strelka2 and DeepSomatic (at least one caller) (Hasan 2026)HG008 primary region (nogermlineinterference), indels, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 2, Class 'INDEL')F1 (indel only, HG008 primary region)0.809
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)Union of Mutect2, Strelka2 and DeepSomatic (at least one caller) (Hasan 2026)HG008 primary region (nogermlineinterference), indels, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 2, Class 'INDEL')False negatives (indel only, HG008 primary region)1080
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)Union of Mutect2, Strelka2 and DeepSomatic (at least one caller) (Hasan 2026)HG008 primary region (nogermlineinterference), indels, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 2, Class 'INDEL')Recall (indel only, HG008 primary region)0.781
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)Union of Mutect2, Strelka2 and DeepSomatic (at least one caller) (Hasan 2026)HG008 primary region (nogermlineinterference), indels, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 2, Class 'INDEL')True positives (indel only, HG008 primary region)3860
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)Union of Mutect2, Strelka2 and DeepSomatic (at least one caller) (Hasan 2026)HG008 primary region (nogermlineinterference), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 1)False negatives (SNVs and indels, HG008 primary region)1190
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)Union of Mutect2, Strelka2 and DeepSomatic (at least one caller) (Hasan 2026)HG008 primary region (nogermlineinterference), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 1)Recall (SNVs and indels, HG008 primary region)0.915
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)Union of Mutect2, Strelka2 and DeepSomatic (at least one caller) (Hasan 2026)HG008 primary region (nogermlineinterference), SNVs and indels combined, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 1)True positives (SNVs and indels, HG008 primary region)12800
Prospectively frozen external benchmarking reveals benchmark-context dependence in somatic variant calling; AmbioSpire P003/T001 publication source data and reproducibility package v1.0.0 (Zenodo)Union of Mutect2, Strelka2 and DeepSomatic (at least one caller) (Hasan 2026)HG008 primary region (nogermlineinterference), SNVs, Mutect2, Strelka2, DeepSomatic and ensembles (Hasan 2026 Table 2, Class 'SNV')False negatives (SNV only, HG008 primary region)113

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