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.