DeepVariant 0.6.0
This release has a new WGS model that has major accuracy improvement on PCR+ data. We also released a new WES model that has some minor accuracy improvement.
A few important changes in this release:
- Changes in the training data for the WGS model:
- Addition:
- 3 replicates of HG001 (PCR+, HiSeqX) provided by DNAnexus
- 2 replicates of HG001 (PCR+, NovaSeq) from BaseSpace public data.
- Removal:
- WES data
(In v0.5.0, we trained our WGS model with WGS+WES data. This time we found that it didn’t help with WGS accuracy, so we removed them)
- WES data
- Addition:
- Improved training data labels. See haplotype_labeler.py
- For direct inputs/outputs from cloud storage, we no longer support direct file I/O (like gs://deepvariant) due to bugs in htslib. Instead we recommend using gcsfuse to read/write data directly on GCS buckets. See “Inputs and Outputs” in DeepVariant user guide.