The omnomicsNGS variant interpretation tool for annotation, classification and reporting has been upgraded to its latest version 2.7 this week in an update that focused on integrating the most up-to-date information for variant analysis.
When mining through genomic variants, it can often be a challenge to filter out or narrow the focus onto the most severe mutations. On the assumption that causative or pathogenic variants are expected to be absent or appear very infrequently in the general population, evaluating the rarest variations is critical to the effectiveness of variant filtering on the path towards diagnosis.
Revered for their efforts in compiling resources of allele frequencies in specified populations, the GnomAD Consortium’s latest version 3.1.2 builds upon previous iterations to provide the most up-to-date collection of allele frequencies. Some stand-out features of this version include frequencies for the Middle East and Amish populations, as well as coverage for the human genome build GRCh38.
OmnomicsNGS further transforms the population data so that it is available for the equivalent variants on GRCh37, as well as calculating and providing the homozygous as well as heterozygous ‘carrier’ frequency of each variant. Now, the tools are in your hands with access to ever growing filterable metrics & data integrations to get most out of your data.
In order to create a paper-trail of actions and methods taken in the working process, a new feature has been added to the omnomicsNGS that allows for the creation of checklists. Users can define a workflow for their own process, and tick off actions which are then timestamped. In doing so, users can be reminded where they left off should they leave their analysis for a period of time, or simply remind themselves of tasks in the analyses.
In addition to introducing GnomAD 3.1.2, omnomicsNGS also received a scheduled upgrade of its other databases, including the Online Mendelian Inheritance in Man (OMIM), The CIViC database, and the Clinical Genomic Database (CGD).
Users may see an increase in the number of annotations from the CIViC database. Formerly, we used to only import annotations that had been reviewed and approved by the community. Now, we further show those annotations under evaluation by the community, so that users can assess themselves.
All these database updates revealed that the time of data import to omnomicsNGS is important in the analysis process. Now the database versions and their date of accession are displayed and can be added to the user reports.
In a nutshell, omnomicsNGS version 2.7 has intensified the flexibility putting the power in your hands to streamline any clinical domain your lab is expanding into.