From the sequencing file to the variant report

1. Upload your sample

2. Create a routine

3. Perform your analysis

4. Report the results

You are free to choose to upload your samples from any Next Generation Sequencing platform (NGS) and in any format (.fastq, .bam and .vcf). You can also access your sequencing files through our integration with Illumina's BaseSpace Hub selecting them and putting them to run on our platform much more quickly and easily.

Easily perform the complete processing of raw data generated from any next generation sequencing platform for germinative and somatic panels, exomes, CNVs and mergers. The data generated by the NGS tools results in a large and complex set of data that requires an accurate processing involving several bioinformatics variables in order to identify the relevant genetic alteration for each case. All bioinformatics steps were automated in the tool, including metrics evaluation, mapping, call for variants, annotation and pre-classification of variants.

We have more than 100 bases of genetic mutations integrated in our data bank with information about germline and somatic variants. Structural variants (CNV and Fusion) will soon be incorporated. We pre-classify the variants according to American College of Medical Genetics and Genomics (ACMG) rules and we have filtering mechanisms based on the annotated characteristics of the variants, including phenotypes, clinical history of the patient and diseases (OMIM/UniProt).

At the end you receive a personalized report with all relevant information for the medical report, containing patient data, variants and therapies. In addition, we have a visualization feature where you can share the results with partners.

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Functionalities

VarsACMG®

Our algorithm was trained through Machine Learning using Varstation's own database and consulting important scientific sources. It pre-classifies the variants following the criteria of the American College of Medical Genetics and Genomics (ACMG) and automates 17 of their 28 rules: BA1, BS1, BS2, BP1, BP3, BP4, BP6, BP7, PVS1, PS1, PM1, PM2, PM4, PM5, PP2, PP3 and PP5. Our results were validated by comparing the performance of the algorithm with manual classifications using data from ClinVar, experts in the field and automatic calculation performed by our main competitors. Intelligent pre-classification optimizes and enhances genomic analysis. Ensures reliable results and in line with international standards and increases the performance of the diagnostic routine.

VarsSmartFilter® (coming soon)

Designed to guarantee an objective analysis of variant lists, with this tool the user can easily organize his variant filtering strategies in a dynamic and intuitive graphical interface. Also create and save filter panels customized for their demand and based on pre-established scenarios, as in cases of germline or somatic variants, in different types of genetic inheritance: autosomal recessive, autosomal dominant, X-linked recessive etc. Available filters are separated in basic options (filters on the variant - location, type, frequency, genotype, damage prediction, molecular functions and biological processes), allele frequency and information from public database variants and advanced options. The dynamic filters are activated with just one click in less action time and high performance to promote fast and powerful results.

Benefits

Sequencer-independent upload

Process and generate results from any DNA sequencing platform and any file format (.fastq, .bam, and .vcf).

Automated, end-to-end processing

Evaluation of quality parameters, mapping, multiple variant callers, database annotation, and automatic pre-classification follows ACMG and AMP guidelines.

Support for clinical interpretation

More than 100 genetic mutations databases are incorporated, including data for germline, somatic and structural variants (CNV and Fusion).

Robust filters

Filtering engine incorporates all annotated mutation data – including human phenotypes, the patient’s clinical history, and diseases (OMIM/UniProt).

Clear and structured results

Provides access to relevant clinical information to support medical reports (e.g. patient data, variants, and relevant therapies) and offers data visualization to make reports accessible for partners.

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