rewirebio.iobenchmarks
Evaluation

MuTect2 on SEQC2 HCC1395/HCC1395BL library-preparation replicates (TruSeq-Nano and Nextera Flex, 1-100 ng DNA), SNVs (Sahraeian et al. 2022)

Published somatic caller comparison; transcribed, not reproduced.

Evaluation results

1 evaluation · 7 results. Different protocols are not a single leaderboard.

Protocol: SEQC2 HCC1395 library preparation and DNA input, SNV F1 (Sahraeian et al. 2022 Table S4) · Dataset: SEQC2 HCC1395/HCC1395BL library-preparation replicates (TruSeq-Nano and Nextera Flex, 1-100 ng DNA)

Sorted by F1 (SNVs, average over the 6 library pairs as printed) (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 configurationF1 (SNVs, average over the 6 library pairs as printed)F1 (SNVs, tumour LBP_Nextera_T_100ng with normal LBP_Nextera_N_100ng)F1 (SNVs, tumour LBP_Nextera_T_10ng with normal LBP_Nextera_N_10ng)F1 (SNVs, tumour LBP_Nextera_T_1ng with normal LBP_Nextera_N_1ng)F1 (SNVs, tumour LBP_TruSeq_T_100ng with normal LBP_TruSeq_N_100ng)F1 (SNVs, tumour LBP_TruSeq_T_10ng with normal LBP_TruSeq_N_10ng)F1 (SNVs, tumour LBP_TruSeq_T_1ng with normal LBP_TruSeq_N_1ng)
MuTect2 4.beta.6 (Sahraeian et al. 2022)Evaluation72.7%89.8%89.7%86%86.5%80.3%3.7%
All 7 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: MuTect2 4.beta.6 (Sahraeian et al. 2022)Protocol: SEQC2 HCC1395 library preparation and DNA input, SNV F1 (Sahraeian et al. 2022 Table S4)
Dataset: SEQC2 HCC1395/HCC1395BL library-preparation replicates (TruSeq-Nano and Nextera Flex, 1-100 ng DNA)
72.7% F1 (SNVs, average over the 6 library pairs as printed)
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

MuTect2 on SEQC2 HCC1395/HCC1395BL library-preparation replicates (TruSeq-Nano and Nextera Flex, 1-100 ng DNA), SNVs (Sahraeian et al. 2022)

somatic-neusomatic-20261010-protocol-sahraeian2022-library-prep-snv

Aggregation: Not reported

Achieving robust somatic mutation detection with deep learning models derived from reference data sets of a cancer sample; Sahraeian et al. 2022, Additional file 2: Supplementary Tables S1-S10 (13059_2021_2592_MOESM2_ESM.pdf) · Additional file 2 Table S4, SNVs section, row 'Average', column 'MuTect2'
Configuration: MuTect2 4.beta.6 (Sahraeian et al. 2022)Protocol: SEQC2 HCC1395 library preparation and DNA input, SNV F1 (Sahraeian et al. 2022 Table S4)
Dataset: SEQC2 HCC1395/HCC1395BL library-preparation replicates (TruSeq-Nano and Nextera Flex, 1-100 ng DNA)
89.8% F1 (SNVs, tumour LBP_Nextera_T_100ng with normal LBP_Nextera_N_100ng)
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

MuTect2 on SEQC2 HCC1395/HCC1395BL library-preparation replicates (TruSeq-Nano and Nextera Flex, 1-100 ng DNA), SNVs (Sahraeian et al. 2022)

somatic-neusomatic-20261010-protocol-sahraeian2022-library-prep-snv

Aggregation: Not reported

Achieving robust somatic mutation detection with deep learning models derived from reference data sets of a cancer sample; Sahraeian et al. 2022, Additional file 2: Supplementary Tables S1-S10 (13059_2021_2592_MOESM2_ESM.pdf) · Additional file 2 Table S4, SNVs section, row 'LBP_Nextera_T_100ng vs LBP_Nextera_N_100ng', column 'MuTect2'
Configuration: MuTect2 4.beta.6 (Sahraeian et al. 2022)Protocol: SEQC2 HCC1395 library preparation and DNA input, SNV F1 (Sahraeian et al. 2022 Table S4)
Dataset: SEQC2 HCC1395/HCC1395BL library-preparation replicates (TruSeq-Nano and Nextera Flex, 1-100 ng DNA)
89.7% F1 (SNVs, tumour LBP_Nextera_T_10ng with normal LBP_Nextera_N_10ng)
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

MuTect2 on SEQC2 HCC1395/HCC1395BL library-preparation replicates (TruSeq-Nano and Nextera Flex, 1-100 ng DNA), SNVs (Sahraeian et al. 2022)

somatic-neusomatic-20261010-protocol-sahraeian2022-library-prep-snv

Aggregation: Not reported

Achieving robust somatic mutation detection with deep learning models derived from reference data sets of a cancer sample; Sahraeian et al. 2022, Additional file 2: Supplementary Tables S1-S10 (13059_2021_2592_MOESM2_ESM.pdf) · Additional file 2 Table S4, SNVs section, row 'LBP_Nextera_T_10ng vs LBP_Nextera_N_10ng', column 'MuTect2'
Configuration: MuTect2 4.beta.6 (Sahraeian et al. 2022)Protocol: SEQC2 HCC1395 library preparation and DNA input, SNV F1 (Sahraeian et al. 2022 Table S4)
Dataset: SEQC2 HCC1395/HCC1395BL library-preparation replicates (TruSeq-Nano and Nextera Flex, 1-100 ng DNA)
86% F1 (SNVs, tumour LBP_Nextera_T_1ng with normal LBP_Nextera_N_1ng)
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

MuTect2 on SEQC2 HCC1395/HCC1395BL library-preparation replicates (TruSeq-Nano and Nextera Flex, 1-100 ng DNA), SNVs (Sahraeian et al. 2022)

somatic-neusomatic-20261010-protocol-sahraeian2022-library-prep-snv

Aggregation: Not reported

Achieving robust somatic mutation detection with deep learning models derived from reference data sets of a cancer sample; Sahraeian et al. 2022, Additional file 2: Supplementary Tables S1-S10 (13059_2021_2592_MOESM2_ESM.pdf) · Additional file 2 Table S4, SNVs section, row 'LBP_Nextera_T_1ng vs LBP_Nextera_N_1ng', column 'MuTect2'
Configuration: MuTect2 4.beta.6 (Sahraeian et al. 2022)Protocol: SEQC2 HCC1395 library preparation and DNA input, SNV F1 (Sahraeian et al. 2022 Table S4)
Dataset: SEQC2 HCC1395/HCC1395BL library-preparation replicates (TruSeq-Nano and Nextera Flex, 1-100 ng DNA)
86.5% F1 (SNVs, tumour LBP_TruSeq_T_100ng with normal LBP_TruSeq_N_100ng)
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

MuTect2 on SEQC2 HCC1395/HCC1395BL library-preparation replicates (TruSeq-Nano and Nextera Flex, 1-100 ng DNA), SNVs (Sahraeian et al. 2022)

somatic-neusomatic-20261010-protocol-sahraeian2022-library-prep-snv

Aggregation: Not reported

Achieving robust somatic mutation detection with deep learning models derived from reference data sets of a cancer sample; Sahraeian et al. 2022, Additional file 2: Supplementary Tables S1-S10 (13059_2021_2592_MOESM2_ESM.pdf) · Additional file 2 Table S4, SNVs section, row 'LBP_TruSeq_T_100ng vs LBP_TruSeq_N_100ng', column 'MuTect2'
Configuration: MuTect2 4.beta.6 (Sahraeian et al. 2022)Protocol: SEQC2 HCC1395 library preparation and DNA input, SNV F1 (Sahraeian et al. 2022 Table S4)
Dataset: SEQC2 HCC1395/HCC1395BL library-preparation replicates (TruSeq-Nano and Nextera Flex, 1-100 ng DNA)
80.3% F1 (SNVs, tumour LBP_TruSeq_T_10ng with normal LBP_TruSeq_N_10ng)
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

MuTect2 on SEQC2 HCC1395/HCC1395BL library-preparation replicates (TruSeq-Nano and Nextera Flex, 1-100 ng DNA), SNVs (Sahraeian et al. 2022)

somatic-neusomatic-20261010-protocol-sahraeian2022-library-prep-snv

Aggregation: Not reported

Achieving robust somatic mutation detection with deep learning models derived from reference data sets of a cancer sample; Sahraeian et al. 2022, Additional file 2: Supplementary Tables S1-S10 (13059_2021_2592_MOESM2_ESM.pdf) · Additional file 2 Table S4, SNVs section, row 'LBP_TruSeq_T_10ng vs LBP_TruSeq_N_10ng', column 'MuTect2'
Configuration: MuTect2 4.beta.6 (Sahraeian et al. 2022)Protocol: SEQC2 HCC1395 library preparation and DNA input, SNV F1 (Sahraeian et al. 2022 Table S4)
Dataset: SEQC2 HCC1395/HCC1395BL library-preparation replicates (TruSeq-Nano and Nextera Flex, 1-100 ng DNA)
3.7% F1 (SNVs, tumour LBP_TruSeq_T_1ng with normal LBP_TruSeq_N_1ng)
percent · higher

Uncertainty: Not reported by the source

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

MuTect2 on SEQC2 HCC1395/HCC1395BL library-preparation replicates (TruSeq-Nano and Nextera Flex, 1-100 ng DNA), SNVs (Sahraeian et al. 2022)

somatic-neusomatic-20261010-protocol-sahraeian2022-library-prep-snv

Aggregation: Not reported

Achieving robust somatic mutation detection with deep learning models derived from reference data sets of a cancer sample; Sahraeian et al. 2022, Additional file 2: Supplementary Tables S1-S10 (13059_2021_2592_MOESM2_ESM.pdf) · Additional file 2 Table S4, SNVs section, row 'LBP_TruSeq_T_1ng vs LBP_TruSeq_N_1ng', column 'MuTect2'

Source checking is not independent reproduction. Release 2026-10-10-cbb3da59bc08.

Research readiness

0 of 4 readiness checks met. These checks assess whether the evidence supports a reproducible investigation; a source-checked score alone does not meet them.

Readiness checks, gaps and artifacts

Release 2026-10-10-cbb3da59bc08 · Evidence verified: Not verified

Evidence incomplete

Replay metrics

Exact outcomes, predictions, identifiers and evaluator are connected.

Missing or unresolved evidence

  • No verified artifact manifest is linked to this exact record.
  • File checksums match the recorded files: not yet verified
  • Predictions are matched to the right samples: not yet verified
  • Score meaning and direction are confirmed: not yet verified
  • Metrics are recomputed from the saved predictions: not yet verified

Verified: Not verified

Evidence incomplete

Investigate discrepancies

Replay evidence includes annotations and an assessment of dependence. Unknown independence permits descriptive analysis only.

Missing or unresolved evidence

  • No verified artifact manifest is linked to this exact record.
  • File checksums match the recorded files: not yet verified
  • Predictions are matched to the right samples: not yet verified
  • Score meaning and direction are confirmed: not yet verified
  • Metrics are recomputed from the saved predictions: not yet verified
  • Sample annotations are recorded: not yet verified
  • Dependence between samples is assessed: not yet verified

Verified: Not verified

Evidence incomplete

Run locally

A pinned recipe describes the inputs, environment and resource requirements.

Missing or unresolved evidence

  • No verified artifact manifest is linked to this exact record.
  • File checksums match the recorded files: not yet verified
  • Predictions are matched to the right samples: not yet verified
  • Score meaning and direction are confirmed: not yet verified
  • A pinned run recipe exists: not yet verified
  • Compute requirements are estimated: not yet verified

Verified: Not verified

Evidence incomplete

Validate independently

Separate data and exposure records support an independent test.

Missing or unresolved evidence

  • No verified artifact manifest is linked to this exact record.
  • File checksums match the recorded files: not yet verified
  • Predictions are matched to the right samples: not yet verified
  • Score meaning and direction are confirmed: not yet verified
  • Independent validation data exist: not yet verified
  • Overlap with training data is checked: not yet verified

Verified: Not verified

Readiness describes the evidence in this release. Availability on your computer is checked separately when an investigation runs. Existing data exposure can prevent independent validation even when files are available.

Artifacts and reproduction

No verified artifact manifest is connected to this record yet. The gaps above identify what is needed before analysis can begin.

Evaluation procedure

SEQC2 HCC1395 library preparation and DNA input, SNV F1 (Sahraeian et al. 2022 Table S4)

Configuration
MuTect2 4.beta.6 (Sahraeian et al. 2022)
Protocol
SEQC2 HCC1395 library preparation and DNA input, SNV F1 (Sahraeian et al. 2022 Table S4)
Dataset
SEQC2 HCC1395/HCC1395BL library-preparation replicates (TruSeq-Nano and Nextera Flex, 1-100 ng DNA)
origin
Independent external evaluation
configuration
Primary source as retrieved 2026-10-10
protocol id
somatic-neusomatic-20261010-protocol-sahraeian2022-library-prep-snv
dataset version
Not reported
split
Held-out 50% of the high-confidence genome
population
6 tumour-normal WGS pairs: TruSeq-Nano and Nextera Flex libraries from 1, 10 and 100 ng DNA
inputs
Tumour and matched normal WGS BAM files (BWA-MEM)
adaptation
Not reported
metric implementation
F1 (%) of PASS calls against the SEQC2 truth set, exact match
aggregation
Per library pair, plus the printed average over 6
budget
Not reported

Metadata review: source checked. Unreported conditions prevent automatic comparisons.

Reproduction

Split
Held-out 50% of the high-confidence genome
Adaptation
Not reported
Scoring implementation
F1 (%) of PASS calls against the SEQC2 truth set, exact match

No execution recipe has been verified for this exact configuration and evaluation. A benchmark's general instructions may use different inputs, splits or model settings.

Reproducing this published result requires matching its model configuration, data, split and scorer. Source checking or a successful smoke test does not establish score reproduction.

Evidence

Source checking verifies the cited claim or transcription. It does not establish independent reproduction.

Evidence table

Inspect claims, sources and review details

Trace each statement to its source and review. A context-only reference supports the record generally; it does not verify an individual field. Source checking does not reproduce an experiment.

One row per statement and cited source. Multiple citations are not independent evaluations. Shared locators are labelled explicitly.

36 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-10-10-cbb3da59bc08
Property and statementOriginal source and locationReview and provenance
Comparison: adaptation
Not reported
Context-only references
Achieving robust somatic mutation detection with deep learning models derived from reference data sets of a cancer sample

Original source ↗

Additional file 2 Table S4, column 'MuTect2', SNVs section

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

Version: Genome Biology 23:12, published 2022-01-07; PMC8740374 full-text XML
Retrieved: 2026-10-10T06:04:11Z

missing or unspecified

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.adaptation

Source artifact SHA-256: 78dbe540c2558585bc7537e0e6563706fdaa329b2708e5dc82b77074379b4a6e

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Comparison: adaptation
Not reported
Context-only references
Sahraeian et al. 2022, Additional file 2: Supplementary Tables S1-S10 (13059_2021_2592_MOESM2_ESM.pdf)

Original source ↗

Additional file 2 Table S4, column 'MuTect2', SNVs section

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

Version: 13059_2021_2592_MOESM2_ESM.pdf
Retrieved: 2026-10-10T06:04:16Z

missing or unspecified

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.adaptation

Source artifact SHA-256: 10a109d80f6f49446ea84bd9f7f6b31c20d634516c8666376ac8a8f51f3236d0

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Comparison: aggregation
Per library pair, plus the printed average over 6
Context-only references
Achieving robust somatic mutation detection with deep learning models derived from reference data sets of a cancer sample

Original source ↗

Additional file 2 Table S4, column 'MuTect2', SNVs section

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

Version: Genome Biology 23:12, published 2022-01-07; PMC8740374 full-text XML
Retrieved: 2026-10-10T06:04:11Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.aggregation

Source artifact SHA-256: 78dbe540c2558585bc7537e0e6563706fdaa329b2708e5dc82b77074379b4a6e

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Comparison: aggregation
Per library pair, plus the printed average over 6
Context-only references
Sahraeian et al. 2022, Additional file 2: Supplementary Tables S1-S10 (13059_2021_2592_MOESM2_ESM.pdf)

Original source ↗

Additional file 2 Table S4, column 'MuTect2', SNVs section

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

Version: 13059_2021_2592_MOESM2_ESM.pdf
Retrieved: 2026-10-10T06:04:16Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.aggregation

Source artifact SHA-256: 10a109d80f6f49446ea84bd9f7f6b31c20d634516c8666376ac8a8f51f3236d0

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Comparison: budget
Not reported
Context-only references
Achieving robust somatic mutation detection with deep learning models derived from reference data sets of a cancer sample

Original source ↗

Additional file 2 Table S4, column 'MuTect2', SNVs section

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

Version: Genome Biology 23:12, published 2022-01-07; PMC8740374 full-text XML
Retrieved: 2026-10-10T06:04:11Z

missing or unspecified

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.budget

Source artifact SHA-256: 78dbe540c2558585bc7537e0e6563706fdaa329b2708e5dc82b77074379b4a6e

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Comparison: budget
Not reported
Context-only references
Sahraeian et al. 2022, Additional file 2: Supplementary Tables S1-S10 (13059_2021_2592_MOESM2_ESM.pdf)

Original source ↗

Additional file 2 Table S4, column 'MuTect2', SNVs section

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

Version: 13059_2021_2592_MOESM2_ESM.pdf
Retrieved: 2026-10-10T06:04:16Z

missing or unspecified

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.budget

Source artifact SHA-256: 10a109d80f6f49446ea84bd9f7f6b31c20d634516c8666376ac8a8f51f3236d0

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Comparison: dataset version
Not reported
Context-only references
Achieving robust somatic mutation detection with deep learning models derived from reference data sets of a cancer sample

Original source ↗

Additional file 2 Table S4, column 'MuTect2', SNVs section

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

Version: Genome Biology 23:12, published 2022-01-07; PMC8740374 full-text XML
Retrieved: 2026-10-10T06:04:11Z

missing or unspecified

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.dataset_version

Source artifact SHA-256: 78dbe540c2558585bc7537e0e6563706fdaa329b2708e5dc82b77074379b4a6e

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Comparison: dataset version
Not reported
Context-only references
Sahraeian et al. 2022, Additional file 2: Supplementary Tables S1-S10 (13059_2021_2592_MOESM2_ESM.pdf)

Original source ↗

Additional file 2 Table S4, column 'MuTect2', SNVs section

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

Version: 13059_2021_2592_MOESM2_ESM.pdf
Retrieved: 2026-10-10T06:04:16Z

missing or unspecified

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.dataset_version

Source artifact SHA-256: 10a109d80f6f49446ea84bd9f7f6b31c20d634516c8666376ac8a8f51f3236d0

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Comparison: inputs
Tumour and matched normal WGS BAM files (BWA-MEM)
Context-only references
Achieving robust somatic mutation detection with deep learning models derived from reference data sets of a cancer sample

Original source ↗

Additional file 2 Table S4, column 'MuTect2', SNVs section

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

Version: Genome Biology 23:12, published 2022-01-07; PMC8740374 full-text XML
Retrieved: 2026-10-10T06:04:11Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.inputs

Source artifact SHA-256: 78dbe540c2558585bc7537e0e6563706fdaa329b2708e5dc82b77074379b4a6e

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Comparison: inputs
Tumour and matched normal WGS BAM files (BWA-MEM)
Context-only references
Sahraeian et al. 2022, Additional file 2: Supplementary Tables S1-S10 (13059_2021_2592_MOESM2_ESM.pdf)

Original source ↗

Additional file 2 Table S4, column 'MuTect2', SNVs section

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

Version: 13059_2021_2592_MOESM2_ESM.pdf
Retrieved: 2026-10-10T06:04:16Z

not individually reviewed

No individual claim review recorded

independent paper

Audit details

Field: attributes.comparison.inputs

Source artifact SHA-256: 10a109d80f6f49446ea84bd9f7f6b31c20d634516c8666376ac8a8f51f3236d0

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Sources and history

Release 2026-10-10-cbb3da59bc08 · Record review: source checked

2 source records and release historyDownload this release (gzip)
Technical metadata and extraction receipts

Stable ID: somatic-neusomatic-20261010-eval-sahraeian2022-mutect2-library-prep-snv

areas
dna-genomes
contexts
clinical_research
origin
independent_paper
protocol
somatic-neusomatic-20261010-protocol-sahraeian2022-library-prep-snv
version
Primary source as retrieved 2026-10-10
comparison
protocol id: somatic-neusomatic-20261010-protocol-sahraeian2022-library-prep-snv; dataset version: Not reported; split: Held-out 50% of the high-confidence genome; population: 6 tumour-normal WGS pairs: TruSeq-Nano and Nextera Flex libraries from 1, 10 and 100 ng DNA; inputs: Tumour and matched normal WGS BAM files (BWA-MEM); adaptation: Not reported; metric implementation: F1 (%) of PASS calls against the SEQC2 truth set, exact match; aggregation: Per library pair, plus the printed average over 6; budget: Not reported
source locator
Additional file 2 Table S4, column 'MuTect2', SNVs section
missing metadata
comparison.dataset version: reason: unreported
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