Geneticist Assistant

Description:

Geneticist Assistant® is an advanced software solution for interpretation of genetic variants generated from next-generation sequencing (NGS) data. It is designed for clinical genetics laboratories, diagnostics and research environments, enabling efficient management, annotation, filtering and classification of genetic variants.

The software provides a complete workflow from sequencing data import to final variant interpretation. It supports standard NGS data formats, including BAM and VCF files, and is compatible with data generated by major sequencing platforms such as Illumina® and Ion Torrent™.

Geneticist Assistant® supports targeted gene panel analysis as well as Whole Exome Sequencing (WES) data analysis. The software integrates information from important databases used for variant interpretation, including clinical databases, population databases and prediction tools for evaluation of variant impact.

Geneticist Assistant® can be integrated with NextGENe®, creating a complete workflow from NGS data processing and variant detection through interpretation and report generation.

Features:

• Variant Database – management, storage and organization of genetic variants for repeated interpretation workflows.
• Variant Annotation – annotation of variants using clinical, population and prediction databases.
• Variant Filtering – advanced filtering of variants according to quality, frequency, variant type and other parameters.
• Sample Comparison – sample comparison and support for family and trio studies.
• Copy Number Variant Analysis – support for copy number variation analysis.
• Report Designer – creation of customizable laboratory reports.
• Quality Metrics – monitoring of quality parameters for result evaluation.
• Patient Information Management – management of patient information linked with samples.
• Coverage Monitoring – monitoring of genomic region coverage.
• User Management – user account management, permissions and audit trail.
• BED File Builder – creation and management of target regions for sequencing panels.

Applications:

• NGS variant interpretation
• Whole Exome Sequencing (WES)
• targeted gene panels
• clinical genetics
• rare disease diagnostics
• oncology genetics
• germline variant analysis
• somatic variant analysis
• family and trio studies
• genetic variant annotation and classification
• clinical report generation

Learn more about how to get started with the product.

More information and videos can be found here.