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

SNV F1 per library pair for nine callers and eight NeuSomatic models.

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17 recorded evaluations, 119 metric rows. A comparison chart has not yet been validated for these results. The table retains the individual findings and their sources.

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Achieving robust somatic mutation detection with deep learning models derived from reference data sets of a cancer sample · Original source · Genome Biology 23:12, published 2022-01-07; PMC8740374 full-text XML
Sahraeian et al. 2022, Additional file 2: Supplementary Tables S1-S10 (13059_2021_2592_MOESM2_ESM.pdf) · Original source · 13059_2021_2592_MOESM2_ESM.pdf

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Technical metadata and extraction receipts

Stable ID: somatic-neusomatic-20261010-protocol-sahraeian2022-library-prep-snv

areas: dna-genomes
contexts: clinical_research
protocol: Paired tumour-normal calling of each library pair; PASS calls scored by exact match. All callers and models were scored on the 50% of the SEQC2 high-confidence genome held out from SEQC-WGS-GT-50 training (about 1.4 Gb; about 21K truth SNVs and 1.3K truth indels), against SEQC2 HighConf and MedConf calls (v1.0), LowConf calls blacklisted and ambiguous private calls excluded.
version: Additional file 2 Table S4
metric: f1-score
limitations: Developer paper: the authors developed NeuSomatic (two hold a patent application on it; Competing interests) and trained and selected every NeuSomatic model; NeuSomatic rows are author_reported.; One cell-line pair (HCC1395/HCC1395BL). The SEQC2 truth set (v1.0, 39,536 SNVs and 2,020 indels) was built by the SEQC2 somatic working group, whose reference papers have co-authors W. Xiao and L. T. Fang as first authors, with the SomaticSeq classifier, which co-authors L. T. Fang and M. Mohiyuddin helped develop (references 2, 3 and 20). It has a 5% VAF and 50x depth detection limit, LowConf calls are blacklisted, and ambiguous private calls are excluded from scoring (Methods 'Evaluation process').; Scored on the 50% of the high-confidence genome held out from SEQC-WGS-GT-50 training (about 21K truth SNVs and 1.3K truth indels). The NeuSomatic and NeuSomatic-S SEQC-WGS-Spike, SEQC-WGS-GT-50 and SEQC-WGS-GT50-SpikeWGS10 models were trained on this cell line and are excluded from this judgement, as is Octopus-RF, whose forest is not identified. The DREAM3 models, trained on DREAM Challenge Stage 3 data, are kept.; The NeuSomatic ensemble mode takes calls from MuTect2, SomaticSniper, Strelka2, MuSE and VarDict as input channels.; Only F1 is printed; no precision, recall or uncertainty in these tables.; Caller versions as in Methods (for example MuTect2 4.beta.6, Strelka2 2.8.4, Lancet 1.0.7, NeuSomatic 0.1.4).; The 1 ng TruSeq-Nano libraries had about 7x effective coverage after duplicate removal (Results).
source locator: Additional file 2 Table S4 (SNVs section); Methods 'Evaluation process'

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