Jun 28, 2021. The ONT model trained with Guppy3 and Guppy4 data performed even worse than Clair on Guppy2 data. We collected and trained a model specially for reads basecalled using Guppy2 or prior. The new model is available here (first released with v0.1-r4
). Below are some benchmarks (GIAB v4.2.1) showing a signficiant improvement when using the correct model for your data.
Model/Caller | Testing Dataset |
Overall- Precision |
Overall- Recall |
Overall- F1 |
SNP- Precision |
SNP- Recall |
SNP- F1 |
Indel- Precision |
Indel- Recall |
Indel- F1 |
---|---|---|---|---|---|---|---|---|---|---|
Guppy2 model | Guppy2 HG002 chr20 ~64x | 98.365% | 92.406% | 95.292% | 99.541% | 99.080% | 99.310% | 85.847% | 50.107% | 63.279% |
Guppy3,4 model | Guppy2 HG002 chr20 ~64x | 72.329% | 90.896% | 80.556% | 99.337% | 98.536% | 98.935% | 14.648% | 42.475% | 21.784% |
Guppy2 model | Guppy4 HG002 chr20 ~64x | 86.897% | 92.707% | 89.708% | 97.983% | 99.579% | 98.775% | 35.773% | 49.156% | 41.410% |
Guppy3,4 model | Guppy4 HG002 chr20 ~64x | 98.512% | 94.601% | 96.517% | 99.759% | 99.749% | 99.754% | 87.586% | 61.976% | 72.588% |
Clair ONT model | Guppy2 HG002 chr20 ~64x | 98.007% | 87.739% | 92.590% | 99.290% | 96.448% | 97.848% | 79.013% | 32.552% | 46.108% |
INPUT_DIR="[YOUR_INPUT_FOLDER]" # e.g. /home/user1/input (absolute path needed)
OUTPUT_DIR="[YOUR_OUTPUT_FOLDER]" # e.g. /home/user1/output (absolute path needed)
THREADS="[MAXIMUM_THREADS]" # e.g. 8
docker run -it \
-v ${INPUT_DIR}:${INPUT_DIR} \
-v ${OUTPUT_DIR}:${OUTPUT_DIR} \
hkubal/clair3:latest \
/opt/bin/run_clair3.sh \
--bam_fn=${INPUT_DIR}/input.bam \ ## change your bam file name here
--ref_fn=${INPUT_DIR}/ref.fa \ ## change your reference name here
--threads=${THREADS} \ ## maximum threads to be used
--platform="ont" \
--model_path="/opt/models/r941_prom_hac_g238" \
--output=${OUTPUT_DIR} ## absolute output path prefix
Check Usage for more options.
Reference | Sample | Aligner | Coverage | Basecaller | link |
---|---|---|---|---|---|
GRCh38 | HG001 | minimap2 | ~124x | Guppy v2.2.3 | - |
GRCh38 | HG002 | minimap2 | ~64x | Guppy v2.3.8 | link |
GRCh38 | HG003 | minimap2 | ~91x | Guppy v2.3.8 | link |
GRCh38 | HG004 | minimap2 | ~90x | Guppy v2.3.8 | link |