12.0.0
- Set overlap requirement for merging two SVs to 0.8, down from the 0.95 default
- Set overlap requirement for SV annotation to 0.6, up from 0.5
- Update Tiddit to improve SV positioning
- Increased memory allocation for salmon and picardtools_mergersamfiles (RNA)
- New version of MegaFusion. A bug in the previous version prevented SVDB from writing the format and sample field in the vcf.
- Remove the RSeQC read duplication analysis as it often fails.
- Increased run time allocation for gatk_asereadcounter.
- Increased the default required length for a trimmed rna read to be retained from 20 bp to 40 bp. Configurable via CLI or config.
- Fixed a bug where gnomad SV version 2.0 instead of version 2.1 was used to annotate SVs
- One-pass instead of two-pass mapping with STAR-Fusion, as recommended for STAR-Fusion 1.12
- Bump max run time for retroseq to 15 hours.
Tools
- Arriba 2.3.0 -> 2.4.0
- DeepVariant 1.4.0 -> 1.5.0
- FastQC: 0.11.9 -> 0.12.1
- GATK: 4.2.6.1 -> 4.4.0.0
- Gffcompare 0.11.2 -> 0.12.6
- Htslib 1.15.1 -> 1.16
- MegaFusion 66a3a80 -> d3feacf
- Picard 2.27.2 -> 2.27.5
- STAR-Fusion 1.11.0 -> 1.12.0
- SVDB: 2.7.0 -> 2.8.2
- Tiddit 3.3.2 -> 3.6.0
Databases
clinvar: 20220829 -> 20230508
loqusdb snapshot: 20230208 -> 20230512
hmtvar: oct2022