A new version of NGS Wizard 1.5.1 was released. The following additional features have emerged in this product:
- To load user files for annotation, i.e. in this version user can annotate found variants with any user-generated data;
- To work with phenotypes from Human Phenotype Ontology (https://hpo.jax.org/app/). User can search for phenotypes, filter by their associated genes, create gene panels based on phenotypes;
- The updated Variant Viewer for prioritization and filtering tool allows you to add, hide and move annotation columns.
Previously available NGS Wizard features have been improved:
- The Pipeline was upgraded in order to detect copy-number variants in sample with low sequencing depth;
- Annotation of variants with OMIM, ClinVar and gnomAD databases was improved;
- Annotation databases versions were updated;
- Multiple improvements were made to all modules.
You can get free trial access to the application at https://genomenal.com.