According to the submitted clinical data, the AI-supported algorithm presents a list of candidate variants without the need for filtering.
The unique solution of Pairend Biotechnology connects the knowledge nodes of ontologies for diseases, clinical features, and gene relationships.
You can transfer the raw data (FASTQ, VCF, BAM) using our customised file upload solution independent of your internet connection quality.
You can upload your raw data (FASTQ, BAM, VCF) regardless of your internet connection quality with the complete solution of Pairend Biotechnology for data transfer PECULIAR.
Phenotypic/clinical information, including age and sex, can be added via our interface using Human Phenotype Ontology (HPO) Terms.
You can check the quality parameters which are widely accepted and agreed upon according to the relevant literature and guidelines that enables the evaluation of the quality of the data and whether it meets the clinical needs.
Our AI-supported algorithm, GENIUS, presents a list of candidate variants according to the submitted clinical data without the need for filtering. Additionally, you can also filter the variants manually.
The variants included in the report either from the list of candidate variants or after manual filtering are converted automatically into a customised report format.
Our expert team is at your service for data interpretation in the scope of diagnostics and research.
NGS Cloud takes into account both the original ACMG/AMP variant classification guideline and the following other recommendations and automatically calculates a proposal for ACMG/AMP classification for all the detected variants with criteria that have been met.
NGS Cloud is a clinical decision support system that automatically presents a list of candidate variants in the light of phenotypic data input and the most essential component of this system is the variant prioritization algorithm, GENIUS (GENe Interactions Under Scope).
You can increase the diagnostic yield of your analyses with the CNV Analysis option of NGS Cloud even for a single case and not necessarily requiring a batch upload.
Gene Panels, Whole Exome Sequencing, Whole Genome Sequencing, RNA Sequencing, Metagenomic
Up-to-date software and tools, The latest version of information sources, Literature mining,
Our expert team is at your service for your technical and clinical questions!
Our data centre is ISO 27001 certified, and 256-bit SSL encryption is used for all data, including storage and transit.
"We are very grateful that our 9-year battle for a diagnosis successfully ended up within minutes with the expertise of NGS Cloud. We are happy to know that there is such an existing platform in the country within our reach which can facilitate and shorten the challenging diagnostic processes, which we believe experienced by the vast majority of the rare disease families."
"Pairend team recommended the right test promptly for our child together with easily reachable counselling options. If we followed the standard single-gene testing, we would have easily lost a year to get a proper diagnosis. However, the CNV detection capability of NGS Cloud enabled us to reach an accurate microdeletion syndrome diagnosis within days"