New Product Add-Ons
- CNV calling on NGS target data is now available as an add-on licensed product to Golden Helix SVS! This is the VS-CNV 2.0 algorithm developed and tuned over the past year by Golden Helix and now available for large-N population and other study types.
Capable of running on NGS target gene panels and exomes, output spreadsheets are designed for Golden Helix SVS statistical analysis.
See the CNV Caller on NGS Target Regions section for more details.
New Features
- When annotating against a gene source, you can now request to have the Upstream and Downstream gene names reported for intergenic variants.
- When importing VCF files, you can now get a spreadsheet of the Variant Allele Frequencies (computed from other VCF fields) that can be used as an input source for the CNV calling algorithm.
Polishes
- The Genotype Principle Component Analysis algorithm now provides an error message when the maximum allowable sample sizes is exceeded instead of crashing.
- The name of output columns for running Mixed Linear Models with Interactions, GBLUP with Interactions and Correlation of Two Traits using GBLUP have been updated to have names based on the interaction variable categories so they can be mapped back to the original trait.
- The documentation in the Methods for Mixed Linear Model Analysis chapter has been greatly expanded for the latest features that implement features and algorithmic options from the GCTA package. These include details on the use of interaction terms, marker-based normalization and the outputs of the correlation of two traits analysis.
Bugs Fixed
- The BEAGLE imputation feature failed to complete with certain datasets due to an underlying library issue introduced in 8.7.1. These were resolved by updating to an improved version of the third party library.